#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
XIST	7503	genome.wustl.edu	37	X	73071116	73071116	+	lincRNA	SNP	T	T	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chrX:73071116T>A	ENST00000429829.1	-	0	1472					NR_001564.2				X inactive specific transcript (non-protein coding)																		TGACAACGCCTGCCATATTGT	0.532																																							0											0													102.0	98.0	99.0					X																	73071116		876	1991	2867			0			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071116T>A				RNA	SNP	0	NULL	ENST00000429829.1	37	NULL		X																																																																																			0	0		0.532	XIST-001	KNOWN	basic	lincRNA	XIST	lincRNA	OTTHUMT00000057239.1	13	104	0	0.00	0	0	T	NR_001564	0	0		73071116	-1	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	9	42	64	72.90	16	113	SNP	0	A
NKAP	79576	genome.wustl.edu	37	X	119077214	119077214	+	Missense_Mutation	SNP	C	C	G			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chrX:119077214C>G	ENST00000371410.3	-	1	521	c.355G>C	c.(355-357)Gac>Cac	p.D119H		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	119					granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CTCTCCTTGTCGAGGAGGCTA	0.602																																							0											0													42.0	41.0	42.0					X																	119077214		2196	4281	6477	SO:0001583	missense	0			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.355G>C	X.37:g.119077214C>G	ENSP00000360464:p.Asp119His		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	pfam_DUF926	p.D119H	ENST00000371410.3	37	c.355	CCDS14592.1	X	.	.	.	.	.	.	.	.	.	.	c	14.32	2.501090	0.44455	.	.	ENSG00000101882	ENST00000371410	T	0.14766	2.48	4.0	3.14	0.36123	.	0.517740	0.22906	N	0.054186	T	0.20700	0.0498	L	0.29908	0.895	0.38196	D	0.940043	D	0.89917	1.0	D	0.65987	0.94	T	0.03898	-1.0994	10	0.62326	D	0.03	-6.1331	8.8294	0.35074	0.0:0.8884:0.0:0.1116	.	119	Q8N5F7	NKAP_HUMAN	H	119	ENSP00000360464:D119H	ENSP00000360464:D119H	D	-	1	0	NKAP	118961242	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.419000	0.44671	1.071000	0.40834	-0.169000	0.13324	GAC	0	NULL		0.602	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAP	protein_coding	OTTHUMT00000058072.1	44	60	0	0.00	0	0	C	NM_024528	0	0		119077214	-1	no_errors	ENST00000371410	ensembl	human	known	74_37	missense	39	45	25	27.42	13	17	SNP	1	G
PLEKHN1	84069	genome.wustl.edu	37	1	907768	907768	+	Silent	SNP	G	G	A	rs376185569	byFrequency	TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:907768G>A	ENST00000379409.2	+	9	1152	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P	PLEKHN1_ENST00000379407.3_Silent_p.P334P|PLEKHN1_ENST00000379410.3_Silent_p.P322P			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	374										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGGGGGCCCCGCCGCTGCCTG	0.677													G|||	2	0.000399361	0.0	0.0029	5008	,	,		13401	0.0		0.0	False		,,,				2504	0.0						0.9996,0.0003994											0								G	,	0,4346		0,0,2173	11.0	12.0	12.0		1002,966	-5.2	0.0	1		12	1,8533		0,1,4266	no	coding-synonymous,coding-synonymous	PLEKHN1	NM_001160184.1,NM_032129.2	,	0,1,6439	AA,AG,GG		0.0117,0.0,0.0078	,	334/577,322/612	907768	1,12879	2173	4267	6440	SO:0001819	synonymous_variant	0			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1122G>A	1.37:g.907768G>A			Q494U2|Q5SV98|Q9H0M7	Silent	SNP	smart_Pleckstrin_homology	p.P374	ENST00000379409.2	37	c.1122		1																																																																																			0	NULL		0.677	PLEKHN1-005	KNOWN	basic	protein_coding	PLEKHN1	protein_coding	OTTHUMT00000473256.1	22	52	0	0.00	0	0	G	NM_032129	rs376185569	G->A		907768	1	no_errors	ENST00000379409	ensembl	human	known	74_37	silent	10	22	28.57	17.86	4	5	SNP	0	A
C1orf127	148345	genome.wustl.edu	37	1	11008316	11008316	+	Missense_Mutation	SNP	G	G	A	rs370186380		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:11008316G>A	ENST00000377008.4	-	11	1821	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	C1orf127_ENST00000377004.4_Missense_Mutation_p.R626C			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	459								p.R459C(1)|p.R626C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTGTCTGGCGTGGCCTCTCC	0.657																																							0											2	Substitution - Missense(2)	lung(2)						G	CYS/ARG	0,4406		0,0,2203	57.0	65.0	62.0		1876	-2.7	0.0	1		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf127	NM_001170754.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	626/824	11008316	1,13005	2203	4300	6503	SO:0001583	missense	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1375C>T	1.37:g.11008316G>A	ENSP00000366207:p.Arg459Cys		A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.R626C	ENST00000377008.4	37	c.1876		1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127043	0.37533	0.0	1.16E-4	ENSG00000175262	ENST00000377004;ENST00000377008	T;T	0.26660	1.72;1.72	4.34	-2.73	0.05950	.	0.920442	0.08805	N	0.891158	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	P;P;P	0.49358	0.923;0.923;0.923	B;B;B	0.31751	0.135;0.135;0.135	T	0.20174	-1.0283	10	0.51188	T	0.08	0.7213	4.868	0.13618	0.3133:0.0:0.4535:0.2331	.	477;451;459	B7ZLG7;Q8N9H9-2;Q8N9H9	.;.;CA127_HUMAN	C	626;459	ENSP00000366203:R626C;ENSP00000366207:R459C	ENSP00000366203:R626C	R	-	1	0	C1orf127	10930903	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.490000	0.06482	-1.073000	0.03137	-2.067000	0.00394	CGC	0	NULL		0.657	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	protein_coding		67	85	0	0.00	0	0	G	NM_173507	rs370186380	G->A		11008316	-1	no_errors	ENST00000377004	ensembl	human	known	74_37	missense	39	42	22	32.26	11	20	SNP	0	A
PAX7	5081	genome.wustl.edu	37	1	19071364	19071364	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:19071364C>T	ENST00000420770.2	+	9	1542	c.1459C>T	c.(1459-1461)Ctc>Ttc	p.L487F		NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	0					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TCGCATGAAGCTCGGGGAGCA	0.557			T	FOXO1A	alveolar rhabdomyosarcoma																																		0		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													25.0	26.0	26.0					1																	19071364		1560	3536	5096	SO:0001583	missense	0			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000420770.2:c.1459C>T	1.37:g.19071364C>T	ENSP00000403389:p.Leu487Phe		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.L487F	ENST00000420770.2	37	c.1459	CCDS44074.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433359	0.83776	.	.	ENSG00000009709	ENST00000420770	D	0.95238	-3.65	5.32	4.2	0.49525	.	.	.	.	.	D	0.93112	0.7807	L	0.54323	1.7	0.80722	D	1	D	0.55385	0.971	P	0.46026	0.501	D	0.93541	0.6878	9	0.66056	D	0.02	.	13.5958	0.61988	0.0:0.9095:0.0:0.0905	.	487	E9PFV9	.	F	487	ENSP00000403389:L487F	ENSP00000403389:L487F	L	+	1	0	PAX7	18943951	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	5.310000	0.65780	2.492000	0.84095	0.655000	0.94253	CTC	0	NULL		0.557	PAX7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX7	protein_coding	OTTHUMT00000372482.1	36	161	0	0.61	0	1	C	NM_002584	0	0		19071364	1	no_errors	ENST00000420770	ensembl	human	known	74_37	missense	20	119	23.08	21.71	6	33	SNP	1	T
EPHA8	2046	genome.wustl.edu	37	1	22919851	22919851	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:22919851C>T	ENST00000166244.3	+	6	1420	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	450	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGTCAAGAGCGGGCGGGGCA	0.652																																							0											0													14.0	13.0	14.0					1																	22919851		2186	4290	6476	SO:0001583	missense	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1348C>T	1.37:g.22919851C>T	ENSP00000166244:p.Arg450Trp		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R450W	ENST00000166244.3	37	c.1348	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259483	0.59321	.	.	ENSG00000070886	ENST00000166244	T	0.54479	0.57	4.27	4.27	0.50696	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.230235	0.35555	N	0.003128	T	0.60379	0.2264	L	0.53671	1.685	0.80722	D	1	D	0.71674	0.998	P	0.60473	0.875	T	0.58329	-0.7655	10	0.38643	T	0.18	.	9.8707	0.41172	0.3105:0.6895:0.0:0.0	.	450	P29322	EPHA8_HUMAN	W	450	ENSP00000166244:R450W	ENSP00000166244:R450W	R	+	1	2	EPHA8	22792438	0.954000	0.32549	0.989000	0.46669	0.834000	0.47266	1.213000	0.32407	2.349000	0.79799	0.591000	0.81541	CGG	0	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.652	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	70	54	0	0.00	0	0	C	NM_020526	0	0		22919851	1	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	52	39	7.14	4.76	4	2	SNP	0.987	T
SFPQ	6421	genome.wustl.edu	37	1	35657000	35657000	+	Missense_Mutation	SNP	T	T	C			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:35657000T>C	ENST00000357214.5	-	2	1057	c.959A>G	c.(958-960)tAt>tGt	p.Y320C		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	320	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGGTTCTCCATATTTAGCAAA	0.378			T	TFE3	papillary renal cell																																		0		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													104.0	106.0	106.0					1																	35657000		2203	4300	6503	SO:0001583	missense	0			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.959A>G	1.37:g.35657000T>C	ENSP00000349748:p.Tyr320Cys		P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.Y320C	ENST00000357214.5	37	c.959	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.570807	0.86542	.	.	ENSG00000116560	ENST00000357214	T	0.19105	2.17	5.25	5.25	0.73442	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.29150	-1.0021	10	0.87932	D	0	-5.1421	15.1818	0.72965	0.0:0.0:0.0:1.0	.	320	P23246	SFPQ_HUMAN	C	320	ENSP00000349748:Y320C	ENSP00000349748:Y320C	Y	-	2	0	SFPQ	35429587	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.991000	0.88244	1.972000	0.57404	0.455000	0.32223	TAT	0	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.378	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	protein_coding	OTTHUMT00000011984.4	111	301	0	0.00	0	0	T	NM_005066	0	0		35657000	-1	no_errors	ENST00000357214	ensembl	human	known	74_37	missense	85	208	29.17	28.81	35	85	SNP	1	C
VAV3	10451	genome.wustl.edu	37	1	108212015	108212015	+	Intron	SNP	C	C	G			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:108212015C>G	ENST00000370056.4	-	19	2052				VAV3_ENST00000343258.4_Intron|VAV3_ENST00000371846.4_Missense_Mutation_p.K554N|VAV3_ENST00000527011.1_Intron|VAV3_ENST00000415432.2_Intron|VAV3_ENST00000544443.1_Intron	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTCAGAATTTCTTGTTCTTCT	0.408																																							0											0																																										SO:0001627	intron_variant	0			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1777+14094G>C	1.37:g.108212015C>G			B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.K554N	ENST00000370056.4	37	c.1662	CCDS785.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.332|9.332	1.060902|1.060902	0.19987|0.19987	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000371846|ENST00000490388	T|.	0.79141|.	-1.24|.	5.94|5.94	-5.23|-5.23	0.02798|0.02798	.|.	.|.	.|.	.|.	.|.	T|T	0.05823|0.05823	0.0152|0.0152	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.33189|0.33189	-0.9878|-0.9878	8|4	0.02654|.	T|.	1|.	.|.	1.8419|1.8419	0.03151|0.03151	0.1155:0.3934:0.213:0.2781|0.1155:0.3934:0.213:0.2781	.|.	554|.	B4DHL6|.	.|.	N|T	554|614	ENSP00000360912:K554N|.	ENSP00000360912:K554N|.	K|R	-|-	3|2	2|0	VAV3|VAV3	108013538|108013538	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.055000|0.055000	0.15305|0.15305	-1.386000|-1.386000	0.02537|0.02537	-0.507000|-0.507000	0.06549|0.06549	-0.916000|-0.916000	0.02749|0.02749	AAG|AGA	0	NULL		0.408	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	protein_coding	OTTHUMT00000030242.2	42	325	0	0.00	0	0	C	NM_006113	0	0		108212015	-1	no_errors	ENST00000371846	ensembl	human	known	74_37	missense	27	220	25	25.34	9	75	SNP	0	G
ECM1	1893	genome.wustl.edu	37	1	150484110	150484110	+	Missense_Mutation	SNP	G	G	C			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:150484110G>C	ENST00000369047.4	+	7	1011	c.886G>C	c.(886-888)Gag>Cag	p.E296Q	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.E323Q|ECM1_ENST00000346569.6_Intron	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	296	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCGGGTCTTGAGCTGCCTTT	0.612																																					Melanoma(156;1696 2560 11093 19685)		0											0													61.0	52.0	55.0					1																	150484110		2203	4300	6503	SO:0001583	missense	0			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.886G>C	1.37:g.150484110G>C	ENSP00000358043:p.Glu296Gln		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.E323Q	ENST00000369047.4	37	c.967	CCDS953.1	1	.	.	.	.	.	.	.	.	.	.	G	8.579	0.881782	0.17467	.	.	ENSG00000143369	ENST00000369049;ENST00000369047	T;T	0.79454	-1.27;-1.27	4.19	-0.0503	0.13831	.	0.631424	0.15499	N	0.259122	T	0.38453	0.1041	L	0.33485	1.01	0.19575	N	0.999963	P;B;B	0.35793	0.521;0.074;0.074	B;B;B	0.33454	0.164;0.084;0.133	T	0.23762	-1.0179	10	0.25106	T	0.35	-2.6745	4.0152	0.09641	0.3158:0.1868:0.4974:0.0	.	323;296;296	Q16610-4;C8CHS3;Q16610	.;.;ECM1_HUMAN	Q	323;296	ENSP00000358045:E323Q;ENSP00000358043:E296Q	ENSP00000358043:E296Q	E	+	1	0	ECM1	148750734	0.042000	0.20092	0.005000	0.12908	0.943000	0.58893	0.213000	0.17521	-0.082000	0.12640	0.555000	0.69702	GAG	0	pfam_ECM1		0.612	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	protein_coding	OTTHUMT00000035832.2	51	173	0	0.00	0	0	G	NM_004425	0	0		150484110	1	no_errors	ENST00000369049	ensembl	human	known	74_37	missense	24	168	14.29	12.95	4	25	SNP	0.021	C
FAM78B	149297	genome.wustl.edu	37	1	166135246	166135246	+	Missense_Mutation	SNP	G	G	C	rs369560911		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:166135246G>C	ENST00000338353.3	-	2	829	c.240C>G	c.(238-240)ttC>ttG	p.F80L	RP11-9L18.3_ENST00000451784.1_RNA|FAM78B_ENST00000354422.3_Missense_Mutation_p.F80L			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	80										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGTAGGTGTTGAAGAACTCCA	0.662																																							0											0													56.0	52.0	53.0					1																	166135246		2203	4299	6502	SO:0001583	missense	0			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.240C>G	1.37:g.166135246G>C	ENSP00000339681:p.Phe80Leu		B7Z693	Missense_Mutation	SNP	NULL	p.F80L	ENST00000338353.3	37	c.240	CCDS30931.1	1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705491	0.30232	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	4.29	4.29	0.51040	.	0.113564	0.64402	D	0.000008	T	0.27313	0.0670	L	0.34521	1.04	0.34590	D	0.715437	B	0.12630	0.006	B	0.14023	0.01	T	0.08229	-1.0732	8	0.13470	T	0.59	-4.9141	14.279	0.66199	0.0:0.0:1.0:0.0	.	80	Q5VT40	FA78B_HUMAN	L	80	.	ENSP00000339681:F80L	F	-	3	2	FAM78B	164401870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.216000	0.77974	2.205000	0.71048	0.467000	0.42956	TTC	0	NULL		0.662	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78B	protein_coding	OTTHUMT00000343108.1	16	87	0	0.00	0	0	G	NM_001017961	0	0		166135246	-1	no_errors	ENST00000338353	ensembl	human	known	74_37	missense	21	67	16	20.00	4	17	SNP	1	C
USH2A	7399	genome.wustl.edu	37	1	215916612	215916612	+	Silent	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:215916612G>A	ENST00000307340.3	-	59	11841	c.11455C>T	c.(11455-11457)Ctg>Ttg	p.L3819L	USH2A_ENST00000366943.2_Silent_p.L3819L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3819	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGAAGGCCAGAGGTGTTACA	0.413										HNSCC(13;0.011)																													0											0													138.0	131.0	134.0					1																	215916612		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11455C>T	1.37:g.215916612G>A			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L3819	ENST00000307340.3	37	c.11455	CCDS31025.1	1																																																																																			0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	80	273	0	0.36	0	1	G	NM_007123	0	0		215916612	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	56	209	17.65	17.00	12	43	SNP	0.476	A
HIST3H2A	92815	genome.wustl.edu	37	1	228645484	228645484	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:228645484C>T	ENST00000366695.2	-	1	76	c.35G>A	c.(34-36)cGc>cAc	p.R12H	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	12					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				AGCCTTGGCGCGCGCCTTGCC	0.622																																							0											0													13.0	17.0	16.0					1																	228645484		2113	4216	6329	SO:0001583	missense	0			AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.35G>A	1.37:g.228645484C>T	ENSP00000355656:p.Arg12His		B2R4S4	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R12H	ENST00000366695.2	37	c.35	CCDS1573.1	1	.	.	.	.	.	.	.	.	.	.	.	13.89	2.371455	0.42003	.	.	ENSG00000181218	ENST00000366695	T	0.47177	0.85	4.07	4.07	0.47477	Histone-fold (2);Histone H2A (1);	0.000000	0.47852	D	0.000219	T	0.53642	0.1809	M	0.68593	2.085	0.45690	D	0.9986	D	0.60160	0.987	P	0.48654	0.585	T	0.62483	-0.6845	10	0.87932	D	0	.	14.5656	0.68173	0.0:1.0:0.0:0.0	.	12	Q7L7L0	H2A3_HUMAN	H	12	ENSP00000355656:R12H	ENSP00000355656:R12H	R	-	2	0	HIST3H2A	226712107	0.919000	0.31177	0.990000	0.47175	0.143000	0.21401	7.176000	0.77643	2.549000	0.85964	0.655000	0.94253	CGC	0	superfamily_Histone-fold,smart_Histone_H2A		0.622	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H2A	protein_coding	OTTHUMT00000096598.1	25	89	0	0.00	0	0	C	NM_033445	0	0		228645484	-1	no_errors	ENST00000366695	ensembl	human	known	74_37	missense	19	75	24	25.74	6	26	SNP	1	T
SIPA1L2	57568	genome.wustl.edu	37	1	232600795	232600795	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:232600795C>T	ENST00000366630.1	-	8	2969	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E871K|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	871					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGAAGACATTCAATGTCAGCA	0.478																																							0											0													103.0	101.0	102.0					1																	232600795		1953	4144	6097	SO:0001583	missense	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2611G>A	1.37:g.232600795C>T	ENSP00000355589:p.Glu871Lys		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.E871K	ENST00000366630.1	37	c.2611	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932607	0.52866	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.44083	0.93;0.93	6.06	5.14	0.70334	.	0.106709	0.64402	D	0.000004	T	0.27489	0.0675	N	0.17082	0.46	0.47905	D	0.999546	B	0.24823	0.112	B	0.22152	0.038	T	0.07654	-1.0761	10	0.48119	T	0.1	-29.4842	10.7741	0.46340	0.0:0.8003:0.1321:0.0675	.	871	Q9P2F8	SI1L2_HUMAN	K	871	ENSP00000355589:E871K;ENSP00000262861:E871K	ENSP00000262861:E871K	E	-	1	0	SIPA1L2	230667418	0.998000	0.40836	0.725000	0.30721	0.747000	0.42532	4.090000	0.57693	1.551000	0.49450	0.650000	0.86243	GAA	0	NULL		0.478	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	protein_coding	OTTHUMT00000092318.1	22	157	0	0.00	0	0	C	XM_045839	0	0		232600795	-1	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	32	125	15.79	25.88	6	44	SNP	0.997	T
SP3	6670	genome.wustl.edu	37	2	174820297	174820297	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr2:174820297G>A	ENST00000310015.6	-	4	1473	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	SP3_ENST00000418194.2_Missense_Mutation_p.R247W|SP3_ENST00000455789.2_Missense_Mutation_p.R262W|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	315					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GGAGAAACCCGCTCACCAGTC	0.403																																							0											0													105.0	110.0	108.0					2																	174820297		2203	4300	6503	SO:0001583	missense	0			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.943C>T	2.37:g.174820297G>A	ENSP00000310301:p.Arg315Trp		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R315W	ENST00000310015.6	37	c.943	CCDS2254.1	2	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995176	0.54147	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.05139	3.5;3.49;3.5	5.51	3.67	0.42095	.	0.170605	0.53938	D	0.000059	T	0.03095	0.0091	N	0.08118	0	0.37047	D	0.897413	B;P;B	0.41978	0.0;0.767;0.0	B;B;B	0.32805	0.0;0.153;0.0	T	0.52924	-0.8510	10	0.66056	D	0.02	.	10.3285	0.43807	0.0701:0.0:0.7945:0.1354	.	312;315;262	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	W	315;262;247	ENSP00000310301:R315W;ENSP00000388903:R262W;ENSP00000406140:R247W	ENSP00000310301:R315W	R	-	1	2	SP3	174528543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.553000	0.82203	0.654000	0.30846	0.563000	0.77884	CGG	0	NULL		0.403	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	protein_coding	OTTHUMT00000255452.1	48	156	0	0.00	0	0	G	NM_003111	0	0		174820297	-1	no_errors	ENST00000310015	ensembl	human	known	74_37	missense	19	113	17.39	29.38	4	47	SNP	1	A
TTN	7273	genome.wustl.edu	37	2	179498642	179498642	+	Missense_Mutation	SNP	G	G	C			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr2:179498642G>C	ENST00000591111.1	-	181	37885	c.37661C>G	c.(37660-37662)aCt>aGt	p.T12554S	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T5322S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T14195S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T11627S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T5255S|TTN_ENST00000460472.2_Missense_Mutation_p.T5130S			Q8WZ42	TITIN_HUMAN	titin	12554	Ig-like 83.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATTTGTGAGTCTTGCCCTC	0.403																																							0											0													326.0	306.0	312.0					2																	179498642		1905	4136	6041	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37661C>G	2.37:g.179498642G>C	ENSP00000465570:p.Thr12554Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T11627S	ENST00000591111.1	37	c.34880		2	.	.	.	.	.	.	.	.	.	.	G	8.871	0.949246	0.18356	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.93	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47619	0.1455	N	0.16656	0.425	0.23950	N	0.996377	B;B;B;B	0.17852	0.024;0.024;0.024;0.024	B;B;B;B	0.18871	0.023;0.023;0.023;0.023	T	0.42032	-0.9475	9	0.87932	D	0	.	4.1476	0.10224	0.229:0.0:0.5031:0.2679	.	5130;5255;5322;12554	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	11627;5130;5322;5255;5130	ENSP00000343764:T11627S;ENSP00000434586:T5130S;ENSP00000340554:T5322S;ENSP00000352154:T5255S	ENSP00000340554:T5322S	T	-	2	0	TTN	179206887	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	1.496000	0.35638	0.859000	0.35456	0.563000	0.77884	ACT	0	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	24	236	0	0.00	0	0	G	NM_133378	0	0		179498642	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	24	151	11.11	24.50	3	49	SNP	0.994	C
CHL1	10752	genome.wustl.edu	37	3	440069	440069	+	Splice_Site	SNP	G	G	C			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr3:440069G>C	ENST00000256509.2	+	25	3895		c.e25+1		CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGAGGGAGAGGTGAGAAATGA	0.378																																							0											0													76.0	75.0	75.0					3																	440069		2203	4300	6503	SO:0001630	splice_region_variant	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3253+1G>C	3.37:g.440069G>C			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	0	e23+1	ENST00000256509.2	37	c.3253+1	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455857	0.84209	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5195	0.95179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHL1	415069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.278000	0.89899	2.634000	0.89283	0.650000	0.86243	.	0	0		0.378	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	protein_coding	OTTHUMT00000207155.2	50	258	0	0.00	0	0	G	NM_006614	0	0	Intron	440069	1	no_errors	ENST00000256509	ensembl	human	known	74_37	splice_site	27	170	18.18	20.56	6	44	SNP	1	C
CLASP2	23122	genome.wustl.edu	37	3	33576832	33576832	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr3:33576832C>T	ENST00000468888.2	-	34	3750	c.3704G>A	c.(3703-3705)cGc>cAc	p.R1235H	CLASP2_ENST00000539981.1_Missense_Mutation_p.R1004H|CLASP2_ENST00000461133.3_Missense_Mutation_p.R994H|CLASP2_ENST00000399362.4_Missense_Mutation_p.R1234H|CLASP2_ENST00000480013.1_Missense_Mutation_p.R1014H|CLASP2_ENST00000359576.5_Missense_Mutation_p.R1226H|CLASP2_ENST00000307312.7_Missense_Mutation_p.R716H			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1015	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GTCTCGAGAGCGTGGAGAGGA	0.443																																							0											0													159.0	157.0	157.0					3																	33576832		2002	4177	6179	SO:0001583	missense	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3704G>A	3.37:g.33576832C>T	ENSP00000419974:p.Arg1235His		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R1234H	ENST00000468888.2	37	c.3701		3	.	.	.	.	.	.	.	.	.	.	C	34	5.335949	0.95758	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T	0.23950	1.89;1.88;1.89	5.22	5.22	0.72569	Armadillo-type fold (1);	0.111526	0.64402	D	0.000007	T	0.52419	0.1733	M	0.73217	2.22	0.53005	D	0.999965	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77004	0.935;0.989;0.988	T	0.54214	-0.8327	10	0.59425	D	0.04	-8.0547	18.7669	0.91876	0.0:1.0:0.0:0.0	.	1015;1226;1234	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	H	1235;1234;1226;716;1004;1014;994	ENSP00000419974:R1235H;ENSP00000382297:R1234H;ENSP00000352581:R1226H	ENSP00000304743:R716H	R	-	2	0	CLASP2	33551836	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.063000	0.76714	2.448000	0.82819	0.591000	0.81541	CGC	0	superfamily_ARM-type_fold		0.443	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	protein_coding	OTTHUMT00000344320.4	48	141	0	0.70	0	1	C	NM_001207044	0	0		33576832	-1	no_errors	ENST00000399362	ensembl	human	known	74_37	missense	25	128	39.02	20.50	16	33	SNP	1	T
DNAH1	25981	genome.wustl.edu	37	3	52433570	52433570	+	Missense_Mutation	SNP	G	G	C			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr3:52433570G>C	ENST00000420323.2	+	77	12712	c.12451G>C	c.(12451-12453)Gag>Cag	p.E4151Q		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4216					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGATGTTTGAGGCACCATC	0.517																																							0											0													40.0	41.0	41.0					3																	52433570		1974	4152	6126	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12451G>C	3.37:g.52433570G>C	ENSP00000401514:p.Glu4151Gln		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.E4151Q	ENST00000420323.2	37	c.12451	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	6.795	0.515623	0.12944	.	.	ENSG00000114841	ENST00000420323	T	0.08282	3.11	5.42	-5.27	0.02763	.	1.085380	0.07105	N	0.841098	T	0.05410	0.0143	L	0.28458	0.855	0.09310	N	1	B	0.06786	0.001	B	0.16289	0.015	T	0.47898	-0.9081	10	0.12430	T	0.62	.	9.6313	0.39780	0.1541:0.2231:0.5609:0.0619	.	4151	C9JXH6	.	Q	4151	ENSP00000401514:E4151Q	ENSP00000401514:E4151Q	E	+	1	0	DNAH1	52408610	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.632000	0.05489	-0.507000	0.06549	-0.165000	0.13383	GAG	0	pfam_Dynein_heavy_dom		0.517	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	protein_coding	OTTHUMT00000350816.1	54	285	0	0.00	0	0	G	NM_015512	0	0		52433570	1	no_errors	ENST00000420323	ensembl	human	known	74_37	missense	43	177	10.42	13.66	5	28	SNP	0	C
ABI3BP	25890	genome.wustl.edu	37	3	100569540	100569540	+	Missense_Mutation	SNP	T	T	G			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr3:100569540T>G	ENST00000284322.5	-	14	1373	c.1264A>C	c.(1264-1266)Act>Cct	p.T422P	ABI3BP_ENST00000471714.1_Missense_Mutation_p.T471P|ABI3BP_ENST00000495063.1_Missense_Mutation_p.T471P	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	422	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTCTAGAAGTTTTAGGTGGG	0.343																																							0											0													135.0	132.0	133.0					3																	100569540		1808	4069	5877	SO:0001583	missense	0			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1264A>C	3.37:g.100569540T>G	ENSP00000284322:p.Thr422Pro		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T422P	ENST00000284322.5	37	c.1264	CCDS46880.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	18.74|18.74|18.74	3.688797|3.688797|3.688797	0.68271|0.68271|0.68271	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000459682|ENST00000471714;ENST00000284322;ENST00000495063	T|.|T;T;T	0.59083|.|0.60797	0.29|.|0.16;0.16;0.16	5.87|5.87|5.87	4.72|4.72|4.72	0.59763|0.59763|0.59763	.|.|.	.|.|0.186770	.|.|0.48767	.|.|D	.|.|0.000176	T|T|T	0.63908|0.63908|0.63908	0.2551|0.2551|0.2551	M|M|M	0.68593|0.68593|0.68593	2.085|2.085|2.085	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D	.|.|0.89917	.|.|1.0;0.995	.|.|D;P	.|.|0.71656	.|.|0.974;0.844	T|T|T	0.66168|0.66168|0.66168	-0.5991|-0.5991|-0.5991	7|5|10	0.45353|.|0.05833	T|.|T	0.12|.|0.94	-18.4918|-18.4918|-18.4918	6.2832|6.2832|6.2832	0.21019|0.21019|0.21019	0.1422:0.0744:0.0:0.7835|0.1422:0.0744:0.0:0.7835|0.1422:0.0744:0.0:0.7835	.|.|.	.|.|471;422	.|.|Q5JPC9;Q7Z7G0	.|.|.;TARSH_HUMAN	N|T|P	99|47|471;422;471	ENSP00000437031:K99N|.|ENSP00000420524:T471P;ENSP00000284322:T422P;ENSP00000433993:T471P	ENSP00000437031:K99N|.|ENSP00000284322:T422P	K|N|T	-|-|-	3|2|1	2|0|0	ABI3BP|ABI3BP|ABI3BP	102052230|102052230|102052230	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	1.686000|1.686000|1.686000	0.37669|0.37669|0.37669	2.371000|2.371000|2.371000	0.80710|0.80710|0.80710	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AAA|AAC|ACT	0	NULL		0.343	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	protein_coding	OTTHUMT00000353260.1	42	291	0	0.00	0	0	T		0	0		100569540	-1	no_errors	ENST00000284322	ensembl	human	known	74_37	missense	31	240	31.11	21.75	14	67	SNP	1	G
MED28	80306	genome.wustl.edu	37	4	17616306	17616306	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr4:17616306C>T	ENST00000237380.7	+	1	53	c.29C>T	c.(28-30)tCt>tTt	p.S10F	AC006160.5_ENST00000511010.1_RNA	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	10					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)				lung(6)|skin(2)	8						GGTATGTTTTCTGGGCAGCCA	0.642																																							0											0													25.0	31.0	29.0					4																	17616306		2201	4299	6500	SO:0001583	missense	0			AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.29C>T	4.37:g.17616306C>T	ENSP00000237380:p.Ser10Phe		Q9BZJ5	Missense_Mutation	SNP	pfam_Mediator_Med28	p.S10F	ENST00000237380.7	37	c.29	CCDS33963.1	4	.	.	.	.	.	.	.	.	.	.	C	14.55	2.570008	0.45798	.	.	ENSG00000118579	ENST00000237380;ENST00000503945	.	.	.	5.46	4.59	0.56863	.	0.452396	0.27294	N	0.020024	T	0.31765	0.0807	N	0.24115	0.695	0.21984	N	0.999434	P	0.38642	0.641	B	0.35413	0.202	T	0.38394	-0.9663	9	0.72032	D	0.01	-0.7322	17.5279	0.87805	0.0:0.8265:0.1735:0.0	.	10	Q9H204	MED28_HUMAN	F	10;7	.	ENSP00000237380:S10F	S	+	2	0	MED28	17225404	0.006000	0.16342	0.900000	0.35374	0.280000	0.26924	2.210000	0.42816	2.840000	0.97914	0.655000	0.94253	TCT	0	NULL		0.642	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED28	protein_coding	OTTHUMT00000360055.3	69	120	0	0.00	0	0	C	NM_025205	0	0		17616306	1	no_errors	ENST00000237380	ensembl	human	known	74_37	missense	71	56	15.48	20.00	13	14	SNP	0.569	T
TXK	7294	genome.wustl.edu	37	4	48114451	48114451	+	Missense_Mutation	SNP	T	T	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr4:48114451T>A	ENST00000264316.4	-	4	338	c.253A>T	c.(253-255)Atc>Ttc	p.I85F	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	85	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TTGACTTGGATCTTCTCTTCA	0.478																																							0											0													135.0	140.0	138.0					4																	48114451		2203	4300	6503	SO:0001583	missense	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.253A>T	4.37:g.48114451T>A	ENSP00000264316:p.Ile85Phe		Q14220	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.I85F	ENST00000264316.4	37	c.253	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	T	9.280	1.047839	0.19827	.	.	ENSG00000074966	ENST00000264316;ENST00000506073	T;T	0.16897	2.31;2.31	5.12	5.12	0.69794	Src homology-3 domain (3);	0.205916	0.31859	N	0.006959	T	0.12347	0.0300	L	0.31207	0.915	0.80722	D	1	P;B	0.42409	0.779;0.411	B;B	0.36030	0.216;0.096	T	0.03287	-1.1052	10	0.59425	D	0.04	.	11.2471	0.49004	0.0:0.0:0.0:1.0	.	85;85	E7EQN8;P42681	.;TXK_HUMAN	F	85	ENSP00000264316:I85F;ENSP00000422798:I85F	ENSP00000264316:I85F	I	-	1	0	TXK	47809208	0.973000	0.33851	0.923000	0.36655	0.859000	0.49053	1.346000	0.33964	2.166000	0.68216	0.460000	0.39030	ATC	0	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.478	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	protein_coding	OTTHUMT00000219869.7	50	234	0	0.00	0	0	T	NM_003328	0	0		48114451	-1	no_errors	ENST00000264316	ensembl	human	known	74_37	missense	33	126	35.29	27.59	18	48	SNP	0.995	A
PDCL2	132954	genome.wustl.edu	37	4	56428640	56428640	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr4:56428640T>A	ENST00000295645.4	-	5	604	c.502A>T	c.(502-504)Aaa>Taa	p.K168*		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	168	Thioredoxin fold. {ECO:0000250}.									endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TGACCATTTTTATACACAAAA	0.308																																							0											0													69.0	66.0	67.0					4																	56428640		1805	4074	5879	SO:0001587	stop_gained	0			BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.502A>T	4.37:g.56428640T>A	ENSP00000295645:p.Lys168*		A8MWA2|B9ZVQ9	Nonsense_Mutation	SNP	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	p.K168*	ENST00000295645.4	37	c.502	CCDS47059.1	4	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037542	0.93630	.	.	ENSG00000163440	ENST00000295645	.	.	.	5.85	5.85	0.93711	.	0.076727	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8146	10.5502	0.45083	0.0:0.0718:0.0:0.9281	.	.	.	.	X	168	.	ENSP00000295645:K168X	K	-	1	0	PDCL2	56123397	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.579000	0.46059	2.235000	0.73313	0.402000	0.26972	AAA	0	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold		0.308	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL2	protein_coding	OTTHUMT00000361659.1	58	213	0	0.47	0	1	T	NM_152401	0	0		56428640	-1	no_errors	ENST00000295645	ensembl	human	known	74_37	nonsense	28	189	39.13	25.88	18	66	SNP	1	A
LPHN3	23284	genome.wustl.edu	37	4	62778447	62778447	+	Missense_Mutation	SNP	G	G	C			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr4:62778447G>C	ENST00000514591.1	+	12	2209	c.1880G>C	c.(1879-1881)aGa>aCa	p.R627T	LPHN3_ENST00000507625.1_Missense_Mutation_p.R695T|LPHN3_ENST00000507164.1_Missense_Mutation_p.R695T|LPHN3_ENST00000504896.1_Missense_Mutation_p.R627T|LPHN3_ENST00000506720.1_Missense_Mutation_p.R695T|LPHN3_ENST00000511324.1_Missense_Mutation_p.R695T|LPHN3_ENST00000545650.1_Missense_Mutation_p.R627T|LPHN3_ENST00000512091.2_Missense_Mutation_p.R627T|LPHN3_ENST00000514996.1_Missense_Mutation_p.R627T|LPHN3_ENST00000508946.1_Missense_Mutation_p.R627T|LPHN3_ENST00000506746.1_Missense_Mutation_p.R695T|LPHN3_ENST00000506700.1_Missense_Mutation_p.R627T|LPHN3_ENST00000509896.1_Missense_Mutation_p.R695T|LPHN3_ENST00000508693.1_Missense_Mutation_p.R695T|LPHN3_ENST00000514157.1_Missense_Mutation_p.R627T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	623					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTCAGAAAAGAGAGCGCTCT	0.368																																							0											0													172.0	154.0	160.0					4																	62778447		1834	4090	5924	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1880G>C	4.37:g.62778447G>C	ENSP00000422533:p.Arg627Thr		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.R695T	ENST00000514591.1	37	c.2084	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818812	0.71028	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72835	-0.65;-0.62;-0.68;-0.67;-0.64;-0.62;-0.66;-0.67;-0.63;-0.64;-0.65;-0.68;-0.69;-0.68;-0.66	5.63	5.63	0.86233	.	.	.	.	.	T	0.81240	0.4781	L	0.60455	1.87	0.52099	D	0.999946	D;D	0.63046	0.992;0.978	P;P	0.62491	0.903;0.736	T	0.82494	-0.0429	9	0.87932	D	0	.	18.655	0.91450	0.0:0.0:1.0:0.0	.	627;627	E9PE04;Q9HAR2-2	.;.	T	627;627;695;695;627;627;627;695;695;695;627;627;627;695;695;627	ENSP00000423388:R627T;ENSP00000422533:R627T;ENSP00000423787:R695T;ENSP00000425033:R695T;ENSP00000424120:R627T;ENSP00000439831:R627T;ENSP00000421476:R695T;ENSP00000424030:R695T;ENSP00000421372:R695T;ENSP00000425201:R627T;ENSP00000423434:R627T;ENSP00000421627:R627T;ENSP00000420931:R695T;ENSP00000425884:R695T;ENSP00000424258:R627T	ENSP00000280009:R627T	R	+	2	0	LPHN3	62461042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.959000	0.93110	2.645000	0.89757	0.561000	0.74099	AGA	0	pfam_DUF3497		0.368	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	protein_coding	OTTHUMT00000361765.1	68	220	1.45	0.45	1	1	G		0	0		62778447	1	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	51	177	7.27	10.50	4	21	SNP	1	C
BANK1	55024	genome.wustl.edu	37	4	102751113	102751113	+	Silent	SNP	G	G	A	rs576573995		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr4:102751113G>A	ENST00000322953.4	+	2	493	c.219G>A	c.(217-219)ctG>ctA	p.L73L	BANK1_ENST00000428908.1_Intron|BANK1_ENST00000504592.1_Silent_p.L58L|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Silent_p.L43L	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	73	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGGAGTTGCTGAACTTAACGT	0.363																																							0											0													84.0	84.0	84.0					4																	102751113		2203	4300	6503	SO:0001819	synonymous_variant	0			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.219G>A	4.37:g.102751113G>A			A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	superfamily_Ankyrin_rpt-contain_dom	p.L73	ENST00000322953.4	37	c.219	CCDS34038.1	4																																																																																			0	NULL		0.363	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	protein_coding	OTTHUMT00000363161.1	151	266	0	0.00	0	0	G	NM_017935	0	0		102751113	1	no_errors	ENST00000322953	ensembl	human	known	74_37	silent	87	217	22.32	19.03	25	51	SNP	0.021	A
PCDHB7	56129	genome.wustl.edu	37	5	140554630	140554630	+	Silent	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr5:140554630C>T	ENST00000231137.3	+	1	2388	c.2214C>T	c.(2212-2214)agC>agT	p.S738S	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	738					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S738R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACTTGAGCGGCACCGGGA	0.617																																							0											1	Substitution - Missense(1)	lung(1)											83.0	130.0	114.0					5																	140554630		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2214C>T	5.37:g.140554630C>T			A1L3Y8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S738	ENST00000231137.3	37	c.2214	CCDS4249.1	5																																																																																			0	NULL		0.617	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	protein_coding	OTTHUMT00000251803.2	111	84	0.89	0.00	1	0	C	NM_018940	0	0		140554630	1	no_errors	ENST00000231137	ensembl	human	known	74_37	silent	76	106	16.3	8.55	15	10	SNP	0.011	T
MCUR1	63933	genome.wustl.edu	37	6	13807194	13807194	+	Missense_Mutation	SNP	G	G	T	rs61659142	byFrequency	TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr6:13807194G>T	ENST00000379170.4	-	2	636	c.498C>A	c.(496-498)ttC>ttA	p.F166L	MCUR1_ENST00000359495.2_Missense_Mutation_p.F166L	NM_001031713.3	NP_001026883.1	Q96AQ8	MCUR1_HUMAN	mitochondrial calcium uniporter regulator 1	166					calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	integral component of mitochondrial inner membrane (GO:0031305)											CATGAGTGTCGAAGTAGAGTT	0.448																																							0											0													181.0	153.0	163.0					6																	13807194		2203	4300	6503	SO:0001583	missense	0			BC016850	CCDS35495.1	6p23	2013-03-13	2013-03-13	2013-03-13	ENSG00000050393	ENSG00000050393			21097	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 79"", ""coiled-coil domain containing 90A"""	C6orf79, CCDC90A		23178883	Standard	NM_001031713		Approved	FLJ20958	uc003nbc.2	Q96AQ8	OTTHUMG00000014279	ENST00000379170.4:c.498C>A	6.37:g.13807194G>T	ENSP00000368468:p.Phe166Leu		Q96JS7|Q9H7F8	Missense_Mutation	SNP	pfam_DUF1640	p.F166L	ENST00000379170.4	37	c.498	CCDS35495.1	6	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797300	0.50208	.	.	ENSG00000050393	ENST00000379170;ENST00000359495	T;T	0.50277	0.75;0.82	5.34	-4.34	0.03666	.	0.053636	0.85682	N	0.000000	T	0.54759	0.1878	M	0.89287	3.02	0.51233	D	0.999917	D	0.89917	1.0	D	0.91635	0.999	T	0.63377	-0.6651	10	0.52906	T	0.07	-8.8761	7.9036	0.29748	0.4281:0.1257:0.4462:0.0	.	166	Q96AQ8	CC90A_HUMAN	L	166	ENSP00000368468:F166L;ENSP00000352475:F166L	ENSP00000352475:F166L	F	-	3	2	CCDC90A	13915173	0.764000	0.28473	0.988000	0.46212	0.497000	0.33675	-0.171000	0.09883	-0.525000	0.06391	-1.264000	0.01445	TTC	0	pfam_DUF1640		0.448	MCUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCUR1	protein_coding	OTTHUMT00000039909.3	87	123	0	0.00	0	0	G	NM_022102	0	0		13807194	-1	no_errors	ENST00000379170	ensembl	human	known	74_37	missense	23	58	32.35	34.83	11	31	SNP	0.983	T
HIST1H2BB	3018	genome.wustl.edu	37	6	26043842	26043842	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr6:26043842G>A	ENST00000357905.2	-	1	43	c.44C>T	c.(43-45)tCt>tTt	p.S15F	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	15					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGCCTTCTTAGAACCCTTTTT	0.453																																							0											0													91.0	91.0	91.0					6																	26043842		2203	4300	6503	SO:0001583	missense	0			AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.44C>T	6.37:g.26043842G>A	ENSP00000350580:p.Ser15Phe		Q4KN36	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S15F	ENST00000357905.2	37	c.44	CCDS4575.1	6	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880967	0.51801	.	.	ENSG00000196226	ENST00000357905	T	0.22945	1.93	5.34	4.42	0.53409	Histone-fold (2);	0.000000	0.64402	U	0.000018	T	0.30070	0.0753	L	0.46741	1.465	0.44018	D	0.996737	D	0.69078	0.997	D	0.71656	0.974	T	0.04781	-1.0927	10	0.49607	T	0.09	.	12.4497	0.55671	0.0864:0.0:0.9136:0.0	.	15	P33778	H2B1B_HUMAN	F	15	ENSP00000350580:S15F	ENSP00000350580:S15F	S	-	2	0	HIST1H2BB	26151821	1.000000	0.71417	0.074000	0.20217	0.001000	0.01503	9.478000	0.97927	1.269000	0.44280	-0.345000	0.07892	TCT	0	superfamily_Histone-fold		0.453	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BB	protein_coding	OTTHUMT00000040083.1	56	181	0	0.00	0	0	G	NM_021062	0	0		26043842	-1	no_errors	ENST00000357905	ensembl	human	known	74_37	missense	34	68	19.05	33.01	8	34	SNP	0.989	A
SGK1	6446	genome.wustl.edu	37	6	134491476	134491476	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr6:134491476G>A	ENST00000237305.7	-	12	1314	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	SGK1_ENST00000528577.1_Missense_Mutation_p.A437V|SGK1_ENST00000475719.2_Missense_Mutation_p.A365V|SGK1_ENST00000367857.5_Missense_Mutation_p.A399V|SGK1_ENST00000413996.3_Missense_Mutation_p.A423V|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000367858.5_Missense_Mutation_p.A504V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	409	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTTGACGCTGGCTGTGACGAG	0.562																																							0											0													74.0	70.0	71.0					6																	134491476		2203	4300	6503	SO:0001583	missense	0			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1226C>T	6.37:g.134491476G>A	ENSP00000237305:p.Ala409Val		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.A504V	ENST00000237305.7	37	c.1511	CCDS5170.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300600	0.81136	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	6.17	6.17	0.99709	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.045861	0.85682	D	0.000000	T	0.62889	0.2465	M	0.80616	2.505	0.80722	D	1	B;B;B;B;B;B	0.34161	0.439;0.044;0.058;0.191;0.439;0.228	B;B;B;B;B;B	0.42188	0.183;0.05;0.137;0.183;0.379;0.191	T	0.62205	-0.6903	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	437;423;365;399;504;409	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	V	504;423;409;399;437;365	ENSP00000356832:A504V;ENSP00000396242:A423V;ENSP00000237305:A409V;ENSP00000356831:A399V;ENSP00000434450:A437V;ENSP00000434302:A365V	ENSP00000237305:A409V	A	-	2	0	SGK1	134533169	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.828000	0.99408	2.941000	0.99782	0.655000	0.94253	GCC	0	pfam_Pkinase_C,smart_AGC-kinase_C		0.562	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK1	protein_coding	OTTHUMT00000042312.2	81	166	0	0.60	0	1	G		0	0		134491476	-1	no_errors	ENST00000367858	ensembl	human	known	74_37	missense	37	62	31.48	38.83	17	40	SNP	1	A
MLLT4	4301	genome.wustl.edu	37	6	168319553	168319553	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr6:168319553G>A	ENST00000447894.2	+	20	2827	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N	MLLT4_ENST00000366806.2_Missense_Mutation_p.D943N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D927N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D950N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D942N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D943N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D943N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	943					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTATTCTTGTGATGTTGTCAG	0.478			T	MLL	AL																																		0		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													96.0	84.0	88.0					6																	168319553		2203	4300	6503	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2827G>A	6.37:g.168319553G>A	ENSP00000404595:p.Asp943Asn		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.D943N	ENST00000447894.2	37	c.2827		6	.	.	.	.	.	.	.	.	.	.	G	35	5.573549	0.96553	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894;ENST00000497596	T;T;T;T;T;T;T	0.08008	3.33;3.25;3.33;3.34;3.14;3.22;3.19	5.5	5.5	0.81552	.	0.057322	0.64402	D	0.000002	T	0.23846	0.0577	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.992;0.997	T	0.00832	-1.1548	10	0.87932	D	0	1.3821	19.7664	0.96346	0.0:0.0:1.0:0.0	.	943;942;943;927	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	N	943;950;943;943;927;943;942;943;106	ENSP00000341118:D943N;ENSP00000252692:D950N;ENSP00000375956:D943N;ENSP00000355771:D943N;ENSP00000375960:D927N;ENSP00000383623:D942N;ENSP00000404595:D943N	ENSP00000345834:D943N	D	+	1	0	MLLT4	168062402	1.000000	0.71417	0.775000	0.31657	0.997000	0.91878	9.211000	0.95120	2.735000	0.93741	0.655000	0.94253	GAT	0	NULL		0.478	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	protein_coding	OTTHUMT00000372077.1	33	274	0	0.00	0	0	G	NM_005936	0	0		168319553	1	no_errors	ENST00000366806	ensembl	human	known	74_37	missense	13	95	18.75	15.18	3	17	SNP	1	A
USP42	84132	genome.wustl.edu	37	7	6189291	6189291	+	Silent	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr7:6189291C>T	ENST00000306177.5	+	13	1622	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	488					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.S616S(1)|p.S488S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ACGGGAATTCCAGTGTCAACA	0.463																																							0											2	Substitution - coding silent(2)	lung(2)											134.0	128.0	130.0					7																	6189291		1946	4136	6082	SO:0001819	synonymous_variant	0			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1464C>T	7.37:g.6189291C>T			A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S488	ENST00000306177.5	37	c.1464	CCDS47535.1	7																																																																																			0	NULL		0.463	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	protein_coding	OTTHUMT00000324262.3	52	256	0	0.00	0	0	C	XM_166526	0	0		6189291	1	no_errors	ENST00000306177	ensembl	human	known	74_37	silent	43	166	27.12	29.54	16	70	SNP	0.005	T
LSMEM1	286006	genome.wustl.edu	37	7	112127106	112127106	+	Splice_Site	SNP	G	G	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr7:112127106G>T	ENST00000312849.4	+	3	617	c.256G>T	c.(256-258)Gtt>Ttt	p.V86F	LSMEM1_ENST00000439068.2_Splice_Site_p.V86F|LSMEM1_ENST00000486022.1_3'UTR	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	86						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											ATTTCTAATAGGTAAGTACCA	0.413																																							0											0													147.0	140.0	142.0					7																	112127106		2203	4300	6503	SO:0001630	splice_region_variant	0			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.256+1G>T	7.37:g.112127106G>T			Q49AR6	Missense_Mutation	SNP	NULL	p.V86F	ENST00000312849.4	37	c.256	CCDS5756.1	7	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803559	0.31869	.	.	ENSG00000181016	ENST00000439068;ENST00000312849	.	.	.	4.97	1.3	0.21679	.	0.301678	0.28442	N	0.015324	T	0.29620	0.0739	N	0.12182	0.205	0.80722	D	1	B	0.25441	0.126	B	0.25506	0.061	T	0.04946	-1.0916	9	0.54805	T	0.06	-15.5756	6.0836	0.19954	0.6858:0.0:0.3142:0.0	.	86	Q8N8F7	CG053_HUMAN	F	86	.	ENSP00000323304:V86F	V	+	1	0	C7orf53	111914342	0.947000	0.32204	0.878000	0.34440	0.772000	0.43724	0.067000	0.14510	0.118000	0.18165	-0.290000	0.09829	GTT	0	NULL		0.413	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LSMEM1	protein_coding	OTTHUMT00000338716.2	87	346	0	0.00	0	0	G	NM_182597	0	0	Missense_Mutation	112127106	1	no_errors	ENST00000312849	ensembl	human	known	74_37	missense	56	188	33.72	21.81	29	53	SNP	0.973	T
CHRM2	1129	genome.wustl.edu	37	7	136699906	136699906	+	Silent	SNP	T	T	C			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr7:136699906T>C	ENST00000445907.2	+	3	822	c.294T>C	c.(292-294)ctT>ctC	p.L98L	CHRM2_ENST00000320658.5_Silent_p.L98L|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Silent_p.L98L|CHRM2_ENST00000453373.1_Silent_p.L98L|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Silent_p.L98L|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Silent_p.L98L|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	98					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGTGTGACCTTTGGCTAGCCC	0.483																																							0											0													189.0	178.0	182.0					7																	136699906		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.294T>C	7.37:g.136699906T>C			Q4VBK6|Q9P1X9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.L98	ENST00000445907.2	37	c.294	CCDS5843.1	7																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	protein_coding	OTTHUMT00000341010.1	33	273	0	0.00	0	0	T		0	0		136699906	1	no_errors	ENST00000320658	ensembl	human	known	74_37	silent	15	187	25	16.37	5	37	SNP	0.818	C
PTPRN2	5799	genome.wustl.edu	37	7	157369457	157369457	+	Silent	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr7:157369457G>A	ENST00000389418.4	-	19	2640	c.2631C>T	c.(2629-2631)tcC>tcT	p.S877S	PTPRN2_ENST00000389416.4_Silent_p.S860S|PTPRN2_ENST00000404321.2_Silent_p.S900S|PTPRN2_ENST00000389413.3_Silent_p.S848S|PTPRN2_ENST00000409483.1_Silent_p.S839S|MIR153-2_ENST00000385225.1_RNA	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	877	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGATGTGCTCGGAGACCAGGT	0.592																																							0											0													55.0	42.0	47.0					7																	157369457		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2631C>T	7.37:g.157369457G>A			E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S900	ENST00000389418.4	37	c.2700	CCDS5947.1	7																																																																																			0	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.592	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	protein_coding	OTTHUMT00000353214.1	19	92	0	0.00	0	0	G		0	0		157369457	-1	no_errors	ENST00000404321	ensembl	human	known	74_37	silent	11	59	21.43	18.06	3	13	SNP	0.71	A
ERICH5	203111	genome.wustl.edu	37	8	99101420	99101420	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr8:99101420C>T	ENST00000318528.3	+	2	534	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		59			R -> H (in dbSNP:rs7833473).							kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AAGGGAAAGCCGTCCTCCCTT	0.498																																							0											0													95.0	87.0	90.0					8																	99101420		2203	4300	6503	SO:0001583	missense	0																														ENST00000318528.3:c.175C>T	8.37:g.99101420C>T	ENSP00000315614:p.Arg59Cys		G3V1K4|Q8N1L8	Missense_Mutation	SNP	NULL	p.R59C	ENST00000318528.3	37	c.175	CCDS34929.1	8	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034244	0.35893	.	.	ENSG00000177459	ENST00000318528	T	0.24538	1.85	4.88	3.94	0.45596	.	1.222390	0.06003	N	0.648042	T	0.15132	0.0365	N	0.08118	0	0.20821	N	0.999843	P	0.44044	0.825	B	0.37780	0.258	T	0.07424	-1.0773	10	0.54805	T	0.06	-16.7164	9.9314	0.41525	0.2025:0.7975:0.0:0.0	.	59	Q6P6B1	CH047_HUMAN	C	59	ENSP00000315614:R59C	ENSP00000315614:R59C	R	+	1	0	C8orf47	99170596	0.001000	0.12720	0.586000	0.28679	0.070000	0.16714	1.398000	0.34554	2.687000	0.91594	0.655000	0.94253	CGT	0	NULL		0.498	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf47	protein_coding	OTTHUMT00000380465.1	61	265	0	0.00	0	0	C		0	0		99101420	1	no_errors	ENST00000318528	ensembl	human	known	74_37	missense	41	251	16.33	24.40	8	81	SNP	0.015	T
SLC45A4	57210	genome.wustl.edu	37	8	142222381	142222381	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr8:142222381C>T	ENST00000024061.3	-	7	2370	c.2063G>A	c.(2062-2064)aGg>aAg	p.R688K	SLC45A4_ENST00000433583.2_Missense_Mutation_p.R681K|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R739K|SLC45A4_ENST00000519067.1_Missense_Mutation_p.R688K	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCCACCGGCCCTGCCTTCGCC	0.642																																							0											0													38.0	36.0	37.0					8																	142222381		2201	4300	6501	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.2063G>A	8.37:g.142222381C>T	ENSP00000024061:p.Arg688Lys		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.R739K	ENST00000024061.3	37	c.2216	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214039	0.39102	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.13538	2.61;2.6;2.6;2.58	4.99	0.468	0.16732	.	1.274720	0.06545	U	0.743925	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.11329	0.004;0.006;0.006	T	0.42666	-0.9438	10	0.27082	T	0.32	-1.829	6.4283	0.21782	0.0:0.287:0.3807:0.3322	.	739;688;688	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	K	688;739;681;688	ENSP00000429059:R688K;ENSP00000428137:R739K;ENSP00000400799:R681K;ENSP00000024061:R688K	ENSP00000024061:R688K	R	-	2	0	SLC45A4	142291563	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	0.001000	0.13038	-0.237000	0.09739	0.655000	0.94253	AGG	0	NULL		0.642	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	protein_coding	OTTHUMT00000378571.3	30	53	0	0.00	0	0	C	XM_050325	0	0		142222381	-1	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	22	40	33.33	40.30	11	27	SNP	0	T
PTPRD	5789	genome.wustl.edu	37	9	8528717	8528717	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr9:8528717G>A	ENST00000381196.4	-	12	958	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	PTPRD_ENST00000397606.3_Missense_Mutation_p.R139C|PTPRD_ENST00000463477.1_Missense_Mutation_p.R139C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R139C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R139C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R139C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R139C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R139C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R139C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R139C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R139C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R139C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	139	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGCGAGTACGCTCAACCACC	0.458										TSP Lung(15;0.13)																													0											0													103.0	96.0	98.0					9																	8528717		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.415C>T	9.37:g.8528717G>A	ENSP00000370593:p.Arg139Cys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.R139C	ENST00000381196.4	37	c.415	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196771	0.79015	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.72615	-0.27;-0.27;-0.67;-0.67;-0.27;-0.67;-0.67;-0.67;-0.27;-0.27;-0.67;2.65	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D;D	0.91635	0.995;0.96;0.96;0.96;0.96;0.761;0.932;0.973;0.999;0.96	T	0.81154	-0.1062	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	139;139;139;139;139;139;139;139;139;139	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	139	ENSP00000370593:R139C;ENSP00000348812:R139C;ENSP00000353187:R139C;ENSP00000351293:R139C;ENSP00000347373:R139C;ENSP00000380741:R139C;ENSP00000380735:R139C;ENSP00000440515:R139C;ENSP00000438164:R139C;ENSP00000417093:R139C;ENSP00000380731:R139C;ENSP00000417661:R139C	.	R	-	1	0	PTPRD	8518717	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.016000	0.88706	2.941000	0.99782	0.655000	0.94253	CGT	0	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	protein_coding	OTTHUMT00000055395.3	64	215	0	0.00	0	0	G		0	0		8528717	-1	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	24	98	51.02	42.01	25	71	SNP	1	A
DAPK1	1612	genome.wustl.edu	37	9	90219958	90219958	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr9:90219958C>T	ENST00000408954.3	+	3	487	c.152C>T	c.(151-153)tCc>tTc	p.S51F	DAPK1_ENST00000358077.5_Missense_Mutation_p.S51F|DAPK1_ENST00000491893.1_Missense_Mutation_p.S51F|DAPK1_ENST00000472284.1_Missense_Mutation_p.S51F|DAPK1_ENST00000469640.2_Missense_Mutation_p.S51F	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGGACTAAGTCCAGCCGGCGG	0.552									Chronic Lymphocytic Leukemia, Familial Clustering of																														0											0													47.0	51.0	50.0					9																	90219958		2173	4282	6455	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.152C>T	9.37:g.90219958C>T	ENSP00000386135:p.Ser51Phe		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.S51F	ENST00000408954.3	37	c.152	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932867	0.92458	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000247	T	0.73984	0.3657	L	0.31157	0.91	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.77557	0.942;0.916;0.99	T	0.77183	-0.2681	10	0.87932	D	0	.	17.55	0.87873	0.0:1.0:0.0:0.0	.	51;51;51	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	F	51	ENSP00000350785:S51F;ENSP00000417076:S51F;ENSP00000418885:S51F;ENSP00000386135:S51F;ENSP00000419026:S51F	ENSP00000350785:S51F	S	+	2	0	DAPK1	89409778	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	7.551000	0.82182	2.628000	0.89032	0.511000	0.50034	TCC	0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.552	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	protein_coding	OTTHUMT00000356843.1	39	163	2.5	0.00	1	0	C	NM_004938	0	0		90219958	1	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	28	88	24.32	25.21	9	30	SNP	1	T
GAPVD1	26130	genome.wustl.edu	37	9	128083733	128083733	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr9:128083733G>A	ENST00000495955.1	+	10	1914	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	GAPVD1_ENST00000470056.1_Missense_Mutation_p.D542N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D542N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D542N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D542N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D542N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D542N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D542N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	542					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCAGCTTTCGGATGGAGGACA	0.373																																							0											0													132.0	123.0	126.0					9																	128083733		2203	4300	6503	SO:0001583	missense	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1624G>A	9.37:g.128083733G>A	ENSP00000419063:p.Asp542Asn		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.D542N	ENST00000495955.1	37	c.1624		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.548860|4.548860	0.86127|0.86127	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	T;T;T;T;T;T;T;T;T|.	0.14516|.	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.102661|.	0.64402|.	D|.	0.000004|.	T|T	0.55369|0.55369	0.1916|0.1916	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;P;P;D|.	0.71674|.	0.996;0.993;0.578;0.718;0.718;0.998|.	D;D;B;B;B;D|.	0.78314|.	0.987;0.971;0.206;0.277;0.206;0.991|.	T|T	0.49908|0.49908	-0.8889|-0.8889	10|5	0.11794|.	T|.	0.64|.	.|.	18.4402|18.4402	0.90664|0.90664	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	542;542;542;542;542;542|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	N|E	542|399	ENSP00000419767:D542N;ENSP00000377665:D542N;ENSP00000377664:D542N;ENSP00000265956:D542N;ENSP00000377645:D542N;ENSP00000419063:D542N;ENSP00000418747:D542N;ENSP00000297933:D542N;ENSP00000309582:D542N|.	ENSP00000265956:D542N|.	D|G	+|+	1|2	0|0	GAPVD1|GAPVD1	127123554|127123554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	7.303000|7.303000	0.78871|0.78871	2.603000|2.603000	0.88011|0.88011	0.563000|0.563000	0.77884|0.77884	GAT|GGA	0	NULL		0.373	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	protein_coding	OTTHUMT00000355644.1	79	295	0	0.00	0	0	G		0	0		128083733	1	no_errors	ENST00000394105	ensembl	human	known	74_37	missense	38	194	17.39	24.81	8	64	SNP	1	A
CUBN	8029	genome.wustl.edu	37	10	16957098	16957098	+	Silent	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr10:16957098G>A	ENST00000377833.4	-	47	7349	c.7284C>T	c.(7282-7284)gtC>gtT	p.V2428V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2428	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGACAAACCTGACCACAGCAG	0.423																																							0											0													113.0	97.0	102.0					10																	16957098		2203	4300	6503	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7284C>T	10.37:g.16957098G>A			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.V2428	ENST00000377833.4	37	c.7284	CCDS7113.1	10																																																																																			0	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	87	94	0	0.00	0	0	G	NM_001081	0	0		16957098	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	silent	49	47	19.67	34.72	12	25	SNP	1	A
ZNF25	219749	genome.wustl.edu	37	10	38241588	38241588	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr10:38241588G>A	ENST00000302609.7	-	6	1050	c.838C>T	c.(838-840)Cac>Tac	p.H280Y	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TCCCCTGTGTGCATTCTCTGA	0.448																																							0											0													87.0	82.0	84.0					10																	38241588		2203	4300	6503	SO:0001583	missense	0			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.838C>T	10.37:g.38241588G>A	ENSP00000302222:p.His280Tyr		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H280Y	ENST00000302609.7	37	c.838	CCDS7195.1	10	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898948	0.52227	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.67523	-0.27	4.73	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000399	T	0.79713	0.4493	H	0.95574	3.69	0.33142	D	0.544478	P	0.49862	0.929	P	0.47603	0.551	D	0.89140	0.3516	10	0.87932	D	0	-25.3695	13.1688	0.59585	0.0:0.1616:0.8384:0.0	.	280	P17030	ZNF25_HUMAN	Y	280;244	ENSP00000302222:H280Y	ENSP00000302222:H280Y	H	-	1	0	ZNF25	38281594	1.000000	0.71417	0.980000	0.43619	0.658000	0.38924	7.314000	0.78988	1.356000	0.45884	0.449000	0.29647	CAC	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	protein_coding	OTTHUMT00000051214.1	53	124	0	0.00	0	0	G	NM_145011, NM_006966	0	0		38241588	-1	no_errors	ENST00000302609	ensembl	human	known	74_37	missense	29	51	23.68	30.14	9	22	SNP	1	A
DCLRE1A	9937	genome.wustl.edu	37	10	115595039	115595039	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr10:115595039C>T	ENST00000361384.2	-	9	3912	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E999K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	999					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CGCTTCATTTCTAGGTAGCTG	0.363								Other identified genes with known or suspected DNA repair function																															0											0													94.0	89.0	90.0					10																	115595039		2203	4300	6503	SO:0001583	missense	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2995G>A	10.37:g.115595039C>T	ENSP00000355185:p.Glu999Lys		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.E999K	ENST00000361384.2	37	c.2995	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.576804	0.96565	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.69926	-0.44;-0.44	5.32	5.32	0.75619	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	D	0.87462	0.6183	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90934	0.4792	10	0.87932	D	0	-27.9197	17.5439	0.87856	0.0:1.0:0.0:0.0	.	999	Q6PJP8	DCR1A_HUMAN	K	999	ENSP00000355185:E999K;ENSP00000358311:E999K	ENSP00000355185:E999K	E	-	1	0	DCLRE1A	115585029	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.389000	0.79806	2.648000	0.89879	0.655000	0.94253	GAA	0	pfam_DRMBL		0.363	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	protein_coding	OTTHUMT00000050444.1	103	319	0	0.00	0	0	C	NM_014881	0	0		115595039	-1	no_errors	ENST00000361384	ensembl	human	known	74_37	missense	78	192	29.09	23.72	32	60	SNP	1	T
PLCB3	5331	genome.wustl.edu	37	11	64031214	64031214	+	Missense_Mutation	SNP	C	C	T	rs142407686		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr11:64031214C>T	ENST00000540288.1	+	21	2610	c.2507C>T	c.(2506-2508)cCg>cTg	p.P836L	PLCB3_ENST00000279230.6_Missense_Mutation_p.P836L|PLCB3_ENST00000325234.5_Missense_Mutation_p.P769L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	836					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTGTGCCTGCCGGCCCTGCTC	0.667																																							0											0								C	LEU/PRO,LEU/PRO	1,4401	2.1+/-5.4	0,1,2200	109.0	104.0	106.0		2507,2306	5.2	1.0	11	dbSNP_134	106	0,8594		0,0,4297	no	missense,missense	PLCB3	NM_000932.2,NM_001184883.1	98,98	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	836/1235,769/1168	64031214	1,12995	2201	4297	6498	SO:0001583	missense	0			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2507C>T	11.37:g.64031214C>T	ENSP00000443631:p.Pro836Leu		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.P836L	ENST00000540288.1	37	c.2507	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862356	0.91511	2.27E-4	0.0	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.12465	2.68;2.68;2.68	5.25	5.25	0.73442	C2 calcium/lipid-binding domain, CaLB (1);	0.053288	0.85682	D	0.000000	T	0.41442	0.1159	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.956;0.977	T	0.39375	-0.9617	10	0.87932	D	0	.	17.6185	0.88074	0.0:1.0:0.0:0.0	.	769;836	G5E960;Q01970	.;PLCB3_HUMAN	L	836;836;769	ENSP00000279230:P836L;ENSP00000443631:P836L;ENSP00000324660:P769L	ENSP00000279230:P836L	P	+	2	0	PLCB3	63787790	1.000000	0.71417	0.975000	0.42487	0.638000	0.38207	7.645000	0.83430	2.462000	0.83206	0.561000	0.74099	CCG	0	pirsf_PLC-beta,superfamily_C2_dom		0.667	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	protein_coding	OTTHUMT00000396405.1	50	115	1.96	0.00	1	0	C		rs142407686	C->T		64031214	1	no_errors	ENST00000279230	ensembl	human	known	74_37	missense	21	73	36.36	25.51	12	25	SNP	1	T
CCDC87	55231	genome.wustl.edu	37	11	66358915	66358915	+	Silent	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr11:66358915C>T	ENST00000333861.3	-	1	1639	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	524					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACAGGAAGGTCGACCAGTCTT	0.483																																							0											0													89.0	89.0	89.0					11																	66358915		2200	4295	6495	SO:0001819	synonymous_variant	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1572G>A	11.37:g.66358915C>T			Q8NE76	Silent	SNP	pfam_MAP65_Ase1_PRC1	p.S524	ENST00000333861.3	37	c.1572	CCDS8145.1	11																																																																																			0	NULL		0.483	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	protein_coding	OTTHUMT00000393825.1	52	240	0	0.00	0	0	C	NM_018219	0	0		66358915	-1	no_errors	ENST00000333861	ensembl	human	known	74_37	silent	46	167	21.67	23.39	13	51	SNP	0	T
RNF169	254225	genome.wustl.edu	37	11	74547372	74547372	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr11:74547372C>T	ENST00000299563.4	+	6	1737	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	575					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACAGTTAATTCAGTGCTACCC	0.413																																							0											0													57.0	57.0	57.0					11																	74547372		1871	4093	5964	SO:0001583	missense	0			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1724C>T	11.37:g.74547372C>T	ENSP00000299563:p.Ser575Leu		Q6N015	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S575L	ENST00000299563.4	37	c.1724	CCDS41691.1	11	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739530	0.49045	.	.	ENSG00000166439	ENST00000299563	T	0.50277	0.75	5.79	5.79	0.91817	.	0.451574	0.21545	N	0.072825	T	0.49695	0.1572	M	0.67953	2.075	0.80722	D	1	B	0.31581	0.329	B	0.28849	0.095	T	0.49688	-0.8913	10	0.51188	T	0.08	-0.0048	17.5299	0.87811	0.0:1.0:0.0:0.0	.	575	Q8NCN4	RN169_HUMAN	L	575	ENSP00000299563:S575L	ENSP00000299563:S575L	S	+	2	0	RNF169	74225020	0.051000	0.20477	0.349000	0.25694	0.935000	0.57460	3.306000	0.51881	2.740000	0.93945	0.563000	0.77884	TCA	0	NULL		0.413	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	protein_coding	OTTHUMT00000384741.1	79	289	0	0.00	0	0	C	XM_495886	0	0		74547372	1	no_errors	ENST00000299563	ensembl	human	known	74_37	missense	39	172	26.42	27.12	14	64	SNP	0.186	T
MMP13	4322	genome.wustl.edu	37	11	102818738	102818738	+	Missense_Mutation	SNP	C	C	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr11:102818738C>A	ENST00000260302.3	-	8	1121	c.1093G>T	c.(1093-1095)Ggt>Tgt	p.G365C	MMP13_ENST00000340273.4_Missense_Mutation_p.G365C	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	365	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TTGGGATAACCTTCCAGAATG	0.368																																							0											0													80.0	73.0	75.0					11																	102818738		2202	4299	6501	SO:0001583	missense	0			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1093G>T	11.37:g.102818738C>A	ENSP00000260302:p.Gly365Cys		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.G365C	ENST00000260302.3	37	c.1093	CCDS8324.1	11	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956250	0.92726	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.23348	1.91;3.71	5.82	5.82	0.92795	Hemopexin/matrixin (2);	0.138299	0.64402	D	0.000003	T	0.67277	0.2876	H	0.95982	3.75	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	T	0.77624	-0.2518	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	365	P45452	MMP13_HUMAN	C	365	ENSP00000260302:G365C;ENSP00000339672:G365C	ENSP00000260302:G365C	G	-	1	0	MMP13	102323948	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	7.764000	0.85297	2.752000	0.94435	0.655000	0.94253	GGT	0	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans		0.368	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MMP13	protein_coding	OTTHUMT00000386648.1	93	271	0	0.00	0	0	C	NM_002427	0	0		102818738	-1	no_errors	ENST00000340273	ensembl	human	novel	74_37	missense	30	168	30.23	30.00	13	72	SNP	1	A
SLC2A14	144195	genome.wustl.edu	37	12	7982501	7982501	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr12:7982501C>T	ENST00000543909.1	-	10	1202	c.443G>A	c.(442-444)cGc>cAc	p.R148H	SLC2A14_ENST00000542546.1_Missense_Mutation_p.R39H|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R148H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R125H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R163H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R39H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R125H			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	148					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AATAACCAAGCGGCCCAGGAT	0.527																																							0											0													91.0	85.0	87.0					12																	7982501		2203	4300	6503	SO:0001583	missense	0			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.443G>A	12.37:g.7982501C>T	ENSP00000440480:p.Arg148His		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.R148H	ENST00000543909.1	37	c.443	CCDS8585.1	12	.	.	.	.	.	.	.	.	.	.	c	16.65	3.182512	0.57800	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344	D;D;D;D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	3.41	3.41	0.39046	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	H	0.99726	4.73	0.58432	D	0.999999	D;D;D;D	0.67145	0.996;0.993;0.991;0.996	D;P;P;D	0.69142	0.924;0.891;0.908;0.962	D	0.97660	1.0160	10	0.87932	D	0	.	12.3094	0.54920	0.0:1.0:0.0:0.0	.	163;39;125;148	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	H	125;148;125;148;39;39;163;125;125;125	ENSP00000340450:R125H;ENSP00000440480:R148H;ENSP00000407287:R125H;ENSP00000379834:R148H;ENSP00000440492:R39H;ENSP00000443903:R39H;ENSP00000445929:R163H;ENSP00000440043:R125H;ENSP00000438312:R125H;ENSP00000443217:R125H	ENSP00000340450:R125H	R	-	2	0	SLC2A14	7873768	1.000000	0.71417	0.943000	0.38184	0.285000	0.27093	6.848000	0.75409	1.430000	0.47334	0.460000	0.39030	CGC	0	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.527	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	SLC2A14	protein_coding	OTTHUMT00000399836.2	40	106	0	0.93	0	1	C	NM_153449	0	0		7982501	-1	no_errors	ENST00000396589	ensembl	human	known	74_37	missense	34	44	27.66	13.73	13	7	SNP	0.996	T
C12orf10	60314	genome.wustl.edu	37	12	53700782	53700782	+	Missense_Mutation	SNP	G	G	A	rs142952424		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr12:53700782G>A	ENST00000267103.5	+	7	1032	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	AAAS_ENST00000549983.1_5'Flank|C12orf10_ENST00000548632.1_Missense_Mutation_p.R252Q|C12orf10_ENST00000549488.1_Missense_Mutation_p.R164Q	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	327					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R327L(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						CGGGGTCTTCGGGACGAGGCC	0.627																																							0											1	Substitution - Missense(1)	lung(1)											88.0	93.0	91.0					12																	53700782		2203	4300	6503	SO:0001583	missense	0			AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"""melanocyte related gene"", ""melanocyte proliferating gene 1"""	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.980G>A	12.37:g.53700782G>A	ENSP00000267103:p.Arg327Gln			Missense_Mutation	SNP	pfam_Met-dep_prot_hydro	p.R164Q	ENST00000267103.5	37	c.491	CCDS31810.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.237784	0.95240	.	.	ENSG00000139637	ENST00000267103;ENST00000548845;ENST00000545214;ENST00000548632;ENST00000549488	T;T;T	0.47869	0.83;0.83;0.83	5.32	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.76071	0.987;0.934	T	0.71013	-0.4715	10	0.87932	D	0	-12.7214	12.1986	0.54311	0.0823:0.0:0.9177:0.0	.	276;327	F5H641;Q9HB07	.;MYG1_HUMAN	Q	327;212;276;252;164	ENSP00000267103:R327Q;ENSP00000450270:R252Q;ENSP00000448433:R164Q	ENSP00000267103:R327Q	R	+	2	0	C12orf10	51987049	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.399000	0.79935	1.630000	0.50440	0.655000	0.94253	CGG	0	pfam_Met-dep_prot_hydro		0.627	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C12orf10	protein_coding	OTTHUMT00000406906.1	24	92	0	1.08	0	1	G	NM_021640	0	0		53700782	1	no_errors	ENST00000549488	ensembl	human	putative	74_37	missense	16	85	46.67	36.30	14	49	SNP	1	A
USP30	84749	genome.wustl.edu	37	12	109509448	109509448	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr12:109509448C>T	ENST00000257548.5	+	5	605	c.512C>T	c.(511-513)tCg>tTg	p.S171L	USP30_ENST00000392784.2_Missense_Mutation_p.S140L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	171	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GTCATTACCTCGTCATTGGAA	0.468																																							0											0													130.0	109.0	116.0					12																	109509448		2203	4300	6503	SO:0001583	missense	0			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.512C>T	12.37:g.109509448C>T	ENSP00000257548:p.Ser171Leu		Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S171L	ENST00000257548.5	37	c.512	CCDS9123.2	12	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990353	0.93106	.	.	ENSG00000135093	ENST00000392784;ENST00000257548;ENST00000536723;ENST00000536393	T;T;T;T	0.75260	-0.92;-0.92;-0.92;4.03	5.2	5.2	0.72013	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.058310	0.64402	D	0.000001	D	0.86049	0.5840	M	0.79805	2.47	0.80722	D	1	D	0.65815	0.995	D	0.63597	0.916	D	0.87844	0.2653	10	0.66056	D	0.02	-10.8375	17.7227	0.88356	0.0:1.0:0.0:0.0	.	171	Q70CQ3	UBP30_HUMAN	L	140;171;140;110	ENSP00000376535:S140L;ENSP00000257548:S171L;ENSP00000443678:S140L;ENSP00000438829:S110L	ENSP00000257548:S171L	S	+	2	0	USP30	107993831	1.000000	0.71417	0.690000	0.30148	0.983000	0.72400	6.250000	0.72435	2.421000	0.82119	0.462000	0.41574	TCG	0	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.468	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP30	protein_coding	OTTHUMT00000257733.2	47	209	0	0.00	0	0	C	NM_032663	0	0		109509448	1	no_errors	ENST00000257548	ensembl	human	known	74_37	missense	51	197	22.73	16.81	15	40	SNP	0.997	T
HECTD4	283450	genome.wustl.edu	37	12	112704761	112704761	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr12:112704761C>T	ENST00000430131.2	-	13	2196	c.1051G>A	c.(1051-1053)Ggt>Agt	p.G351S	HECTD4_ENST00000550722.1_Missense_Mutation_p.G639S|RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000377560.5_Missense_Mutation_p.G601S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	351					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCAGTTTCACCTGGGTACAAG	0.299																																							0											0													39.0	39.0	39.0					12																	112704761		2172	4234	6406	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1051G>A	12.37:g.112704761C>T	ENSP00000404379:p.Gly351Ser		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.G601S	ENST00000430131.2	37	c.1801		12	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482713	0.63962	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000550724	T;T;T	0.52295	0.67;0.68;0.67	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	N	0.08118	0	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.991;0.996	T	0.63157	-0.6700	10	0.72032	D	0.01	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	351;351;351	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	S	601;351;639;29	ENSP00000366783:G601S;ENSP00000404379:G351S;ENSP00000449784:G639S	ENSP00000366783:G601S	G	-	1	0	C12orf51	111189144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.070000	0.64376	2.854000	0.98071	0.655000	0.94253	GGT	0	NULL		0.299	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		112	298	0	0.00	0	0	C	NM_173813	0	0		112704761	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	87	297	25.42	21.43	30	81	SNP	1	T
CLIP1	6249	genome.wustl.edu	37	12	122763584	122763584	+	Silent	SNP	C	C	G			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr12:122763584C>G	ENST00000540338.1	-	21	3797	c.3756G>C	c.(3754-3756)ctG>ctC	p.L1252L	CLIP1_ENST00000540539.1_5'Flank|CLIP1_ENST00000545889.1_Silent_p.L827L|CLIP1_ENST00000361654.4_Silent_p.L1130L|CLIP1_ENST00000302528.7_Silent_p.L1241L|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000537178.1_Silent_p.L1206L|CLIP1_ENST00000358808.2_Silent_p.L1241L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1252					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CCTCATTTCTCAGTTTCTCCA	0.468																																							0											0													167.0	155.0	159.0					12																	122763584		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3756G>C	12.37:g.122763584C>G			A0AVD3|Q17RS4|Q29RG0	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.L1252	ENST00000540338.1	37	c.3756	CCDS58285.1	12																																																																																			0	NULL		0.468	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	protein_coding	OTTHUMT00000401625.1	61	220	0	0.00	0	0	C	NM_002956	0	0		122763584	-1	no_errors	ENST00000540338	ensembl	human	known	74_37	silent	49	251	18.33	17.97	11	55	SNP	1	G
STARD13	90627	genome.wustl.edu	37	13	33685017	33685017	+	Missense_Mutation	SNP	G	G	C	rs142383363		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr13:33685017G>C	ENST00000336934.5	-	11	2751	c.2635C>G	c.(2635-2637)Cgt>Ggt	p.R879G	STARD13_ENST00000255486.4_Missense_Mutation_p.R871G|STARD13_ENST00000399365.3_Missense_Mutation_p.R761G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	879					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TACGAGTTACGAGACTGGGCC	0.532																																							0											0													114.0	80.0	92.0					13																	33685017		2203	4300	6503	SO:0001583	missense	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2635C>G	13.37:g.33685017G>C	ENSP00000338785:p.Arg879Gly		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.R879G	ENST00000336934.5	37	c.2635	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602403	0.28534	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.07800	3.16;3.17;3.17	5.93	4.13	0.48395	.	0.384646	0.32015	N	0.006713	T	0.22475	0.0542	M	0.84326	2.69	0.80722	D	1	P;B;B	0.37985	0.613;0.106;0.029	P;B;B	0.48304	0.573;0.201;0.075	T	0.00621	-1.1640	10	0.46703	T	0.11	.	12.9815	0.58567	0.0:0.1243:0.7463:0.1294	.	844;879;871	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	G	761;871;879	ENSP00000382300:R761G;ENSP00000255486:R871G;ENSP00000338785:R879G	ENSP00000255486:R871G	R	-	1	0	STARD13	32583017	0.938000	0.31826	0.006000	0.13384	0.265000	0.26407	5.141000	0.64814	0.771000	0.33359	0.655000	0.94253	CGT	0	NULL		0.532	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	protein_coding	OTTHUMT00000276118.2	65	163	0	0.00	0	0	G	NM_001243466	0	0		33685017	-1	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	45	92	11.76	32.61	6	45	SNP	0.362	C
NAA16	79612	genome.wustl.edu	37	13	41885703	41885703	+	Silent	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr13:41885703C>T	ENST00000379406.3	+	1	363	c.39C>T	c.(37-39)ctC>ctT	p.L13L	NAA16_ENST00000379367.3_Silent_p.L13L|NAA16_ENST00000403412.3_Silent_p.L13L	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	13					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AGAGCAACCTCTTCAAACGCA	0.731																																							0											0													18.0	20.0	20.0					13																	41885703		2199	4293	6492	SO:0001819	synonymous_variant	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.39C>T	13.37:g.41885703C>T			B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L13	ENST00000379406.3	37	c.39	CCDS9379.1	13																																																																																			0	pirsf_NatA_aux_su		0.731	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	protein_coding	OTTHUMT00000044672.2	29	57	0	0.00	0	0	C	NM_018527	0	0		41885703	1	no_errors	ENST00000379406	ensembl	human	known	74_37	silent	10	60	23.08	22.08	3	17	SNP	1	T
COL4A1	1282	genome.wustl.edu	37	13	110830441	110830441	+	Missense_Mutation	SNP	G	G	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr13:110830441G>T	ENST00000375820.4	-	32	2717	c.2596C>A	c.(2596-2598)Cag>Aag	p.Q866K		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	866	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGAGCCCCCTGCTGTCCAGGA	0.542																																							0											0													66.0	75.0	72.0					13																	110830441		2203	4300	6503	SO:0001583	missense	0			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2596C>A	13.37:g.110830441G>T	ENSP00000364979:p.Gln866Lys		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.Q866K	ENST00000375820.4	37	c.2596	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881702	0.51908	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.83591	-1.74	5.52	5.52	0.82312	.	0.202192	0.42964	D	0.000638	T	0.75072	0.3800	N	0.01289	-0.905	0.80722	D	1	D	0.63046	0.992	D	0.65684	0.937	T	0.74064	-0.3785	10	0.07175	T	0.84	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	866	P02462	CO4A1_HUMAN	K	509;866;515	ENSP00000364979:Q866K	ENSP00000364973:Q509K	Q	-	1	0	COL4A1	109628442	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.106000	0.71511	2.595000	0.87683	0.655000	0.94253	CAG	0	pfam_Collagen		0.542	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	protein_coding	OTTHUMT00000045759.3	43	228	0	0.44	0	1	G		0	0		110830441	-1	no_errors	ENST00000375820	ensembl	human	known	74_37	missense	38	164	26.92	21.53	14	45	SNP	1	T
MYH7	4625	genome.wustl.edu	37	14	23902825	23902825	+	Silent	SNP	C	C	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr14:23902825C>A	ENST00000355349.3	-	3	279	c.117G>T	c.(115-117)gtG>gtT	p.V39V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	39			V -> M (in CMH1). {ECO:0000269|PubMed:12707239}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTCATCAGGCACGAAGACAT	0.572																																							0											0													125.0	105.0	112.0					14																	23902825		2203	4300	6503	SO:0001819	synonymous_variant	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.117G>T	14.37:g.23902825C>A			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V39	ENST00000355349.3	37	c.117	CCDS9601.1	14																																																																																			0	pfam_Myosin_N,superfamily_P-loop_NTPase		0.572	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	36	161	0	0.00	0	0	C	NM_000257	0	0		23902825	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	silent	13	121	23.53	19.33	4	29	SNP	1	A
POLE2	5427	genome.wustl.edu	37	14	50120764	50120764	+	Silent	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr14:50120764G>A	ENST00000216367.5	-	15	1254	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	POLE2_ENST00000554396.1_Silent_p.I385I|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000539565.2_Silent_p.I359I	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	385					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	ATTCATTAGTGATGCTTTCAG	0.284																																							0											0													70.0	71.0	71.0					14																	50120764		2203	4300	6503	SO:0001819	synonymous_variant	0			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1155C>T	14.37:g.50120764G>A			A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu	p.I385	ENST00000216367.5	37	c.1155	CCDS32073.1	14																																																																																			0	pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_e_bsu		0.284	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	POLE2	protein_coding	OTTHUMT00000410512.1	173	322	0	0.00	0	0	G	NM_002692	0	0		50120764	-1	no_errors	ENST00000216367	ensembl	human	known	74_37	silent	123	198	20.13	22.57	31	58	SNP	1	A
KLC1	3831	genome.wustl.edu	37	14	104135927	104135927	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr14:104135927C>T	ENST00000348520.6	+	6	1196	c.877C>T	c.(877-879)Cat>Tat	p.H293Y	KLC1_ENST00000452929.2_Missense_Mutation_p.H293Y|KLC1_ENST00000557575.1_Missense_Mutation_p.H293Y|KLC1_ENST00000389744.4_Missense_Mutation_p.H293Y|KLC1_ENST00000554280.1_Missense_Mutation_p.H293Y|KLC1_ENST00000334553.6_Missense_Mutation_p.H293Y|KLC1_ENST00000553286.1_Missense_Mutation_p.H293Y|KLC1_ENST00000380038.3_Missense_Mutation_p.H293Y|KLC1_ENST00000347839.6_Missense_Mutation_p.H293Y|KLC1_ENST00000555836.1_Missense_Mutation_p.H293Y|KLC1_ENST00000445352.4_Missense_Mutation_p.H291Y|KLC1_ENST00000557450.1_Missense_Mutation_p.H293Y|KLC1_ENST00000246489.7_Missense_Mutation_p.H293Y|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.H465Y	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	293					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GGGCAAAGATCATCCTGCGGT	0.338																																							0											0													132.0	126.0	128.0					14																	104135927		2203	4300	6503	SO:0001583	missense	0			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.877C>T	14.37:g.104135927C>T	ENSP00000341154:p.His293Tyr		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.H293Y	ENST00000348520.6	37	c.877	CCDS41996.1	14	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425376	0.83667	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	M	0.92507	3.315	0.80722	D	1	D;D;D;P;D	0.76494	0.964;0.998;0.999;0.879;0.992	P;D;D;P;P	0.71870	0.596;0.949;0.975;0.752;0.872	D	0.98600	1.0658	10	0.87932	D	0	-19.6886	19.6493	0.95794	0.0:1.0:0.0:0.0	.	293;293;465;293;291	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	Y	293;293;293;293;293;293;293;293;293;293;293;293;293;291;465	ENSP00000341154:H293Y;ENSP00000369377:H293Y;ENSP00000374394:H293Y;ENSP00000450617:H293Y;ENSP00000452487:H293Y;ENSP00000334618:H293Y;ENSP00000452481:H293Y;ENSP00000334523:H293Y;ENSP00000246489:H293Y;ENSP00000450648:H293Y;ENSP00000451242:H293Y;ENSP00000414982:H293Y;ENSP00000412693:H291Y;ENSP00000439065:H465Y	ENSP00000246489:H293Y	H	+	1	0	KLC1;RP11-73M18.2	103205680	1.000000	0.71417	0.579000	0.28588	0.801000	0.45260	7.771000	0.85420	2.711000	0.92665	0.591000	0.81541	CAT	0	pfscan_TPR-contain_dom,prints_Kinesin_light		0.338	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	protein_coding	OTTHUMT00000402947.2	65	254	0	0.00	0	0	C	NM_005552	0	0		104135927	1	no_errors	ENST00000334553	ensembl	human	known	74_37	missense	54	190	12.9	22.13	8	54	SNP	1	T
AHNAK2	113146	genome.wustl.edu	37	14	105413036	105413036	+	Missense_Mutation	SNP	C	C	T	rs77077255		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr14:105413036C>T	ENST00000333244.5	-	7	8871	c.8752G>A	c.(8752-8754)Gtc>Atc	p.V2918I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2918						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCTTGACGTCTATCTGG	0.657																																							0											0													137.0	153.0	148.0					14																	105413036		1869	4089	5958	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8752G>A	14.37:g.105413036C>T	ENSP00000353114:p.Val2918Ile		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V2918I	ENST00000333244.5	37	c.8752	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.449921	0.00175	.	.	ENSG00000185567	ENST00000333244	T	0.00832	5.64	4.12	-8.14	0.01069	.	.	.	.	.	T	0.00524	0.0017	N	0.12831	0.26	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47623	-0.9103	9	0.05351	T	0.99	.	10.9871	0.47528	0.0:0.5193:0.3216:0.1591	.	2918	Q8IVF2	AHNK2_HUMAN	I	2918	ENSP00000353114:V2918I	ENSP00000353114:V2918I	V	-	1	0	AHNAK2	104484081	0.014000	0.17966	0.003000	0.11579	0.001000	0.01503	-0.865000	0.04250	-2.517000	0.00500	-3.684000	0.00024	GTC	0	NULL		0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	63	32	0	0.00	0	0	C	NM_138420	rs77077255	C->T		105413036	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	40	23	23.08	42.50	12	17	SNP	0.017	T
HERC2P3	283755	genome.wustl.edu	37	15	20644361	20644361	+	RNA	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr15:20644361C>T	ENST00000428453.1	-	0	3202							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CACCCTGCGCCGCCTCAGCGT	0.657																																							0											0													5.0	4.0	4.0					15																	20644361		1957	3722	5679			0			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644361C>T				RNA	SNP	0	NULL	ENST00000428453.1	37	NULL		15																																																																																			0	0		0.657	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	pseudogene	OTTHUMT00000347772.2	35	8	0	0.00	0	0	C	NG_008269	0	0		20644361	-1	no_errors	ENST00000426501	ensembl	human	known	74_37	rna	48	7	15.79	22.22	9	2	SNP	1	T
SEC14L5	9717	genome.wustl.edu	37	16	5057391	5057391	+	Silent	SNP	C	C	G			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:5057391C>G	ENST00000251170.7	+	13	1656	c.1476C>G	c.(1474-1476)ctC>ctG	p.L492L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	492						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCAAGTCCCTCTACATGACAG	0.627																																							0											0													45.0	47.0	46.0					16																	5057391		2065	4197	6262	SO:0001819	synonymous_variant	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1476C>G	16.37:g.5057391C>G				Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.L492	ENST00000251170.7	37	c.1476	CCDS45403.1	16																																																																																			0	superfamily_CRAL-TRIO_dom		0.627	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	protein_coding	OTTHUMT00000434379.1	38	106	0	0.00	0	0	C		0	0		5057391	1	no_errors	ENST00000251170	ensembl	human	known	74_37	silent	13	62	46.15	30.34	12	27	SNP	1	G
DNAH3	55567	genome.wustl.edu	37	16	21136549	21136549	+	Missense_Mutation	SNP	C	C	G			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:21136549C>G	ENST00000261383.3	-	9	1350	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	DNAH3_ENST00000415178.1_Missense_Mutation_p.E451Q|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	451	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGACCAGCTCCCTAAGCTGC	0.448																																							0											0													126.0	121.0	123.0					16																	21136549		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1351G>C	16.37:g.21136549C>G	ENSP00000261383:p.Glu451Gln		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.E451Q	ENST00000261383.3	37	c.1351	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976839	0.34848	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.23348	1.91;2.08	5.75	4.8	0.61643	.	1.027390	0.07714	N	0.942577	T	0.25419	0.0618	L	0.42245	1.32	0.22389	N	0.999141	B;B	0.24132	0.002;0.098	B;B	0.26310	0.003;0.068	T	0.33214	-0.9877	10	0.10377	T	0.69	.	13.8127	0.63273	0.0:0.9255:0.0:0.0745	.	451;422	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	Q	451;451;422	ENSP00000261383:E451Q;ENSP00000394245:E451Q	ENSP00000261383:E451Q	E	-	1	0	DNAH3	21044050	0.956000	0.32656	0.962000	0.40283	0.945000	0.59286	2.497000	0.45354	1.440000	0.47531	0.655000	0.94253	GAG	0	NULL		0.448	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	64	228	0	0.00	0	0	C	NM_017539	0	0		21136549	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	38	166	26.92	20.28	14	43	SNP	0.994	G
GTF3C1	2975	genome.wustl.edu	37	16	27556751	27556751	+	Missense_Mutation	SNP	C	C	G			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:27556751C>G	ENST00000356183.4	-	2	330	c.315G>C	c.(313-315)gaG>gaC	p.E105D	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E105D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	105					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATCCTTATTCTCTAAGATCA	0.453																																							0											0													138.0	118.0	125.0					16																	27556751		2197	4300	6497	SO:0001583	missense	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.315G>C	16.37:g.27556751C>G	ENSP00000348510:p.Glu105Asp		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.E105D	ENST00000356183.4	37	c.315	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	6.728	0.503055	0.12822	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.31769	1.48	4.33	3.27	0.37495	.	0.147856	0.44902	D	0.000415	T	0.11495	0.0280	N	0.04994	-0.135	0.28466	N	0.915641	B;B	0.22683	0.073;0.016	B;B	0.19666	0.026;0.011	T	0.07731	-1.0757	10	0.25751	T	0.34	-4.3527	2.8319	0.05503	0.1492:0.4361:0.3067:0.108	.	105;105	Q12789;Q12789-3	TF3C1_HUMAN;.	D	105	ENSP00000348510:E105D	ENSP00000348510:E105D	E	-	3	2	GTF3C1	27464252	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	1.092000	0.30927	2.113000	0.64589	0.491000	0.48974	GAG	0	NULL		0.453	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	protein_coding	OTTHUMT00000433856.1	41	296	0	0.00	0	0	C	NM_001520	0	0		27556751	-1	no_errors	ENST00000356183	ensembl	human	known	74_37	missense	28	186	28.21	27.06	11	69	SNP	1	G
MAZ	4150	genome.wustl.edu	37	16	29821498	29821498	+	Silent	SNP	G	G	A	rs11559001		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:29821498G>A	ENST00000322945.6	+	5	1545	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S	AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000566906.2_Missense_Mutation_p.G115R|AC009133.14_ENST00000563806.1_RNA|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000358758.7_5'Flank|AC009133.15_ENST00000566537.1_RNA|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000563402.1_Missense_Mutation_p.G117R|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000568544.1_Silent_p.S61S|MAZ_ENST00000545521.1_Silent_p.S437S|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Silent_p.S155S	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	460					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GCTCCCTCTCGGGGGCGGAGG	0.677																																					Colon(72;875 1167 15364 30899 37091)		0											0													9.0	12.0	11.0					16																	29821498		1935	4105	6040	SO:0001819	synonymous_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1380G>A	16.37:g.29821498G>A			A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	NULL	p.G117R	ENST00000322945.6	37	c.349	CCDS42143.1	16																																																																																			0	NULL		0.677	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	protein_coding	OTTHUMT00000435536.1	18	35	0	0.00	0	0	G	NM_002383	rs11559001	G->A		29821498	1	no_errors	ENST00000563402	ensembl	human	novel	74_37	missense	5	29	44.44	30.95	4	13	SNP	0.853	A
CYLD	1540	genome.wustl.edu	37	16	50820834	50820834	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:50820834C>T	ENST00000427738.3	+	12	2223	c.2018C>T	c.(2017-2019)tCa>tTa	p.S673L	CYLD_ENST00000569418.1_Missense_Mutation_p.S670L|CYLD_ENST00000540145.1_Missense_Mutation_p.S673L|CYLD_ENST00000398568.2_Missense_Mutation_p.S670L|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.S673L|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.S670L|CYLD_ENST00000568704.2_Missense_Mutation_p.S488L|CYLD_ENST00000566206.1_Missense_Mutation_p.S670L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	673	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GAGGCTGCATCAGGATTTACC	0.323			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														0	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													112.0	117.0	116.0					16																	50820834		1839	4091	5930	SO:0001583	missense	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2018C>T	16.37:g.50820834C>T	ENSP00000392025:p.Ser673Leu		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67	p.S673L	ENST00000427738.3	37	c.2018	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182046	0.78677	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.32272	1.46;1.46;1.46	5.47	5.47	0.80525	.	0.056003	0.85682	D	0.000000	T	0.50188	0.1601	L	0.58810	1.83	0.80722	D	1	D;D;D	0.57257	0.979;0.974;0.974	P;P;P	0.57846	0.828;0.736;0.736	T	0.49428	-0.8941	10	0.87932	D	0	-10.5133	19.6888	0.95989	0.0:1.0:0.0:0.0	.	670;673;670	A8KAB0;F5H2R7;Q9NQC7-2	.;.;.	L	673;673;670;670	ENSP00000445447:S673L;ENSP00000308928:S673L;ENSP00000381574:S670L	ENSP00000308928:S673L	S	+	2	0	CYLD	49378335	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.171000	0.77595	2.733000	0.93635	0.467000	0.42956	TCA	0	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.323	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	protein_coding	OTTHUMT00000422998.2	91	260	0	0.38	0	1	C		0	0		50820834	1	no_errors	ENST00000311559	ensembl	human	known	74_37	missense	21	157	38.24	32.03	13	74	SNP	1	T
PLCG2	5336	genome.wustl.edu	37	16	81965142	81965142	+	Silent	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:81965142C>T	ENST00000359376.3	+	25	2836	c.2622C>T	c.(2620-2622)ttC>ttT	p.F874F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	874					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCTTTGTCTTCATCCTGGAGC	0.517																																							0											0													74.0	79.0	78.0					16																	81965142		1899	4121	6020	SO:0001819	synonymous_variant	0				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2622C>T	16.37:g.81965142C>T			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.F874	ENST00000359376.3	37	c.2622	CCDS42204.1	16																																																																																			0	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma		0.517	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	protein_coding	OTTHUMT00000432429.1	64	241	0	0.00	0	0	C		0	0		81965142	1	no_errors	ENST00000359376	ensembl	human	known	74_37	silent	17	61	26.09	39.60	6	40	SNP	0.603	T
MYH1	4619	genome.wustl.edu	37	17	10411812	10411812	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr17:10411812C>T	ENST00000226207.5	-	16	1859	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	589	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGTAGTCCACGGTGCCAGCA	0.507																																							0											0													103.0	101.0	101.0					17																	10411812		2203	4300	6503	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1765G>A	17.37:g.10411812C>T	ENSP00000226207:p.Val589Met		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V589M	ENST00000226207.5	37	c.1765	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781113	0.90282	.	.	ENSG00000109061	ENST00000226207	D	0.93953	-3.32	4.73	4.73	0.59995	Myosin head, motor domain (2);	0.000000	0.38897	U	0.001530	D	0.98422	0.9475	H	0.99732	4.735	0.58432	D	0.999999	D	0.76494	0.999	D	0.70716	0.97	D	0.99585	1.0974	10	0.87932	D	0	.	18.2598	0.90031	0.0:1.0:0.0:0.0	.	589	P12882	MYH1_HUMAN	M	589	ENSP00000226207:V589M	ENSP00000226207:V589M	V	-	1	0	MYH1	10352537	1.000000	0.71417	0.971000	0.41717	0.830000	0.47004	5.646000	0.67916	2.630000	0.89119	0.650000	0.86243	GTG	0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.507	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	protein_coding	OTTHUMT00000252725.1	65	81	0	0.00	0	0	C	NM_005963	0	0		10411812	-1	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	45	50	33.82	20.31	23	13	SNP	1	T
MYO15A	51168	genome.wustl.edu	37	17	18036682	18036682	+	Silent	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr17:18036682C>T	ENST00000205890.5	+	12	4802	c.4464C>T	c.(4462-4464)gtC>gtT	p.V1488V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1488	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGGCAACGTCTACTTTGAGA	0.602																																							0											0													41.0	44.0	43.0					17																	18036682		2073	4200	6273	SO:0001819	synonymous_variant	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4464C>T	17.37:g.18036682C>T			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.V1488	ENST00000205890.5	37	c.4464	CCDS42271.1	17																																																																																			0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	25	127	0	0.00	0	0	C	NM_016239	0	0		18036682	1	no_errors	ENST00000205890	ensembl	human	known	74_37	silent	17	94	32	16.81	8	19	SNP	1	T
CYB561	1534	genome.wustl.edu	37	17	61511941	61511941	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr17:61511941G>A	ENST00000392976.1	-	6	877	c.578C>T	c.(577-579)gCa>gTa	p.A193V	CYB561_ENST00000360793.3_Missense_Mutation_p.A193V|CYB561_ENST00000582997.1_Missense_Mutation_p.A200V|CYB561_ENST00000448884.2_3'UTR|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000582034.1_Missense_Mutation_p.A164V|CYB561_ENST00000581573.1_Missense_Mutation_p.A193V|CYB561_ENST00000542042.1_Missense_Mutation_p.A260V|CYB561_ENST00000584031.1_3'UTR|RP11-269G24.4_ENST00000584608.1_lincRNA|CYB561_ENST00000392975.2_Missense_Mutation_p.A193V|CYB561_ENST00000582297.1_Intron	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	193	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GGGCTCAAATGCGCTATACTT	0.612																																							0											0													39.0	40.0	40.0					17																	61511941		2203	4300	6503	SO:0001583	missense	0				CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.578C>T	17.37:g.61511941G>A	ENSP00000376702:p.Ala193Val		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.A193V	ENST00000392976.1	37	c.578	CCDS11636.1	17	.	.	.	.	.	.	.	.	.	.	G	9.624	1.134604	0.21123	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000542042	T;T;T;T	0.64085	-0.05;-0.05;-0.05;-0.08	4.98	-3.35	0.04928	Cytochrome b561/ferric reductase transmembrane (1);	0.993015	0.08197	N	0.982977	T	0.39489	0.1080	N	0.22421	0.69	0.09310	N	1	B;B	0.22480	0.07;0.003	B;B	0.21151	0.033;0.002	T	0.21690	-1.0238	10	0.27082	T	0.32	-1.3474	3.8914	0.09120	0.4042:0.0:0.2541:0.3417	.	260;193	F5H757;P49447	.;CY561_HUMAN	V	193;193;193;260	ENSP00000354028:A193V;ENSP00000376702:A193V;ENSP00000376701:A193V;ENSP00000442773:A260V	ENSP00000354028:A193V	A	-	2	0	CYB561	58865673	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.897000	0.04110	-0.165000	0.10908	-1.355000	0.01225	GCA	0	pfscan_Cyt_b561/ferric_Rdtase_TM		0.612	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB561	protein_coding	OTTHUMT00000444843.1	54	117	0	0.00	0	0	G	NM_001915	0	0		61511941	-1	no_errors	ENST00000360793	ensembl	human	known	74_37	missense	27	59	30.77	28.92	12	24	SNP	0	A
RNF213	57674	genome.wustl.edu	37	17	78318573	78318573	+	Silent	SNP	G	G	C			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr17:78318573G>C	ENST00000582970.1	+	29	6581	c.6438G>C	c.(6436-6438)ctG>ctC	p.L2146L	RNF213_ENST00000508628.2_Silent_p.L2195L|RNF213_ENST00000336301.6_Silent_p.L219L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2146					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGAGTGCCCTGAGGAGTGACA	0.493																																							0											0													118.0	112.0	114.0					17																	78318573		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6438G>C	17.37:g.78318573G>C			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L2146	ENST00000582970.1	37	c.6438	CCDS58606.1	17																																																																																			0	NULL		0.493	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	50	193	0	0.00	0	0	G	NM_020914	0	0		78318573	1	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	33	107	28.26	22.46	13	31	SNP	0	C
FZR1	51343	genome.wustl.edu	37	19	3532524	3532524	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr19:3532524C>T	ENST00000395095.3	+	10	1118	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	FZR1_ENST00000441788.2_Missense_Mutation_p.S373L|FZR1_ENST00000313639.8_Missense_Mutation_p.S284L	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	373					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGGCCTCGGGGGGCGGC	0.647																																							0											0													33.0	34.0	34.0					19																	3532524		2201	4299	6500	SO:0001583	missense	0			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1118C>T	19.37:g.3532524C>T	ENSP00000378529:p.Ser373Leu		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S373L	ENST00000395095.3	37	c.1118	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	c	19.61	3.860428	0.71834	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.72615	-0.67;-0.67;-0.67	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	H	0.99789	4.78	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.997	P;D;P	0.76575	0.741;0.988;0.804	D	0.95773	0.8810	10	0.87932	D	0	-16.4761	17.0096	0.86401	0.0:1.0:0.0:0.0	.	373;284;373	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	L	373;373;284	ENSP00000410369:S373L;ENSP00000378529:S373L;ENSP00000321800:S284L	ENSP00000321800:S284L	S	+	2	0	FZR1	3483524	1.000000	0.71417	0.075000	0.20258	0.076000	0.17211	7.539000	0.82063	2.353000	0.79882	0.537000	0.68136	TCG	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.647	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	protein_coding	OTTHUMT00000452869.2	32	40	0	0.00	0	0	C	NM_016263	0	0		3532524	1	no_errors	ENST00000395095	ensembl	human	known	74_37	missense	12	26	42.86	23.53	9	8	SNP	0.993	T
PIAS4	51588	genome.wustl.edu	37	19	4028760	4028760	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr19:4028760C>T	ENST00000262971.2	+	6	830	c.715C>T	c.(715-717)Ccg>Tcg	p.P239S	PIAS4_ENST00000596144.1_3'UTR	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	239	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCAAGAGGCCGTGCCGCCC	0.652																																							0											0													84.0	75.0	78.0					19																	4028760		2203	4300	6503	SO:0001583	missense	0			AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.715C>T	19.37:g.4028760C>T	ENSP00000262971:p.Pro239Ser		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.P239S	ENST00000262971.2	37	c.715	CCDS12118.1	19	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296250	0.81025	.	.	ENSG00000105229	ENST00000262971	T	0.32988	1.43	4.74	4.74	0.60224	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	M	0.79011	2.435	0.80722	D	1	P	0.51057	0.941	P	0.59221	0.854	T	0.61352	-0.7080	10	0.87932	D	0	-32.5153	16.7056	0.85371	0.0:1.0:0.0:0.0	.	239	Q8N2W9	PIAS4_HUMAN	S	239	ENSP00000262971:P239S	ENSP00000262971:P239S	P	+	1	0	PIAS4	3979760	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	7.764000	0.85297	2.180000	0.69256	0.555000	0.69702	CCG	0	NULL		0.652	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS4	protein_coding	OTTHUMT00000457496.1	45	118	0	0.00	0	0	C	NM_015897	0	0		4028760	1	no_errors	ENST00000262971	ensembl	human	known	74_37	missense	21	92	40	26.40	14	33	SNP	1	T
FBN3	84467	genome.wustl.edu	37	19	8191232	8191232	+	Splice_Site	SNP	C	C	G			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr19:8191232C>G	ENST00000600128.1	-	21	2969		c.e21-1		FBN3_ENST00000270509.2_Splice_Site|FBN3_ENST00000601739.1_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGGCAGGGTCTGCAACTGGG	0.632																																							0											0													33.0	35.0	35.0					19																	8191232		2194	4296	6490	SO:0001630	splice_region_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2555-1G>C	19.37:g.8191232C>G			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Splice_Site	SNP	0	e20-1	ENST00000600128.1	37	c.2555-1	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881794	0.51908	.	.	ENSG00000142449	ENST00000270509	.	.	.	2.87	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5462	0.68032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN3	8097232	1.000000	0.71417	0.960000	0.40013	0.675000	0.39556	4.526000	0.60566	1.574000	0.49760	0.555000	0.69702	.	0	0		0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	96	81	0	0.00	0	0	C	NM_032447	0	0	Intron	8191232	-1	no_errors	ENST00000270509	ensembl	human	known	74_37	splice_site	51	44	12.07	24.14	7	14	SNP	1	G
C3P1	388503	genome.wustl.edu	37	19	10169262	10169262	+	RNA	SNP	G	G	A	rs369148845		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr19:10169262G>A	ENST00000495140.1	+	0	1814							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CCAAGGCTCCGAGGAGGATGT	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21012	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0								G		1,3993		0,1,1996	91.0	92.0	92.0			3.7	0.4	19		92	11,8339		0,11,4164	no	intergenic				0,12,6160	AA,AG,GG		0.1317,0.025,0.0972			10169262	12,12332	1997	4175	6172			0			AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10169262G>A				RNA	SNP	0	NULL	ENST00000495140.1	37	NULL		19																																																																																			0	0		0.547	C3P1-002	KNOWN	basic	processed_transcript	C3P1	pseudogene	OTTHUMT00000351284.1	40	171	2.44	0.58	1	1	G	NR_027300	rs369148845	G->A		10169262	1	no_errors	ENST00000495140	ensembl	human	known	74_37	rna	39	111	9.3	23.45	4	34	SNP	0.618	A
WDR62	284403	genome.wustl.edu	37	19	36558337	36558337	+	Missense_Mutation	SNP	G	G	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr19:36558337G>A	ENST00000270301.7	+	6	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K	WDR62_ENST00000388999.3_Missense_Mutation_p.E231K|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000401500.2_Missense_Mutation_p.E231K			O43379	WDR62_HUMAN	WD repeat domain 62	231					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTCTCCACTGAGACAAAGGT	0.532																																							0											0													127.0	115.0	119.0					19																	36558337		2203	4300	6503	SO:0001583	missense	0			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.691G>A	19.37:g.36558337G>A	ENSP00000270301:p.Glu231Lys		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E231K	ENST00000270301.7	37	c.691	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549528	0.65311	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.57273	1.05;0.64;5.06;0.41	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.330730	0.35262	N	0.003332	T	0.49236	0.1545	N	0.17594	0.5	0.42909	D	0.99425	D;P;B	0.62365	0.991;0.765;0.208	P;B;B	0.60012	0.867;0.314;0.038	T	0.30851	-0.9964	10	0.09084	T	0.74	-21.9932	14.3318	0.66561	0.0:0.0:1.0:0.0	.	231;231;231	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	K	231;231;231;231;253	ENSP00000384792:E231K;ENSP00000373651:E231K;ENSP00000368137:E231K;ENSP00000270301:E231K	ENSP00000270301:E231K	E	+	1	0	WDR62	41250177	0.998000	0.40836	0.992000	0.48379	0.976000	0.68499	3.262000	0.51538	2.775000	0.95449	0.650000	0.86243	GAG	0	superfamily_WD40_repeat_dom		0.532	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	protein_coding	OTTHUMT00000457436.1	21	230	0	0.00	0	0	G	NM_015671	0	0		36558337	1	no_errors	ENST00000401500	ensembl	human	known	74_37	missense	17	136	26.09	23.16	6	41	SNP	0.726	A
NLRP12	91662	genome.wustl.edu	37	19	54314512	54314512	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr19:54314512C>T	ENST00000324134.6	-	3	569	c.401G>A	c.(400-402)cGc>cAc	p.R134H	NLRP12_ENST00000391772.1_Missense_Mutation_p.R134H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R134H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R134H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R134H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R134H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R134H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R134H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	134					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAATTTCCTGCGGACATAGTC	0.552																																							0											0													85.0	83.0	84.0					19																	54314512		2203	4300	6503	SO:0001583	missense	0			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.401G>A	19.37:g.54314512C>T	ENSP00000319377:p.Arg134His		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R134H	ENST00000324134.6	37	c.401	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884395	0.51908	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	4.47	4.47	0.54385	.	0.000000	0.41938	D	0.000800	D	0.93128	0.7812	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.996;0.996;0.997	D	0.93096	0.6504	10	0.72032	D	0.01	.	8.8545	0.35221	0.0:0.8953:0.0:0.1047	.	134;134;134;134	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	134	ENSP00000319377:R134H;ENSP00000438030:R134H;ENSP00000340473:R134H;ENSP00000346231:R134H;ENSP00000375655:R134H;ENSP00000375653:R134H;ENSP00000375652:R134H	ENSP00000319377:R134H	R	-	2	0	NLRP12	59006324	0.000000	0.05858	0.309000	0.25155	0.393000	0.30537	0.417000	0.21214	2.228000	0.72767	0.306000	0.20318	CGC	0	NULL		0.552	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	protein_coding	OTTHUMT00000134340.1	62	243	0	0.00	0	0	C	NM_144687	0	0		54314512	-1	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	42	137	19.23	17.96	10	30	SNP	0.983	T
BMP2	650	genome.wustl.edu	37	20	6758985	6758985	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr20:6758985C>T	ENST00000378827.4	+	3	1659	c.440C>T	c.(439-441)tCa>tTa	p.S147L		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	147					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						TTTATCACCTCAGCAGAGCTT	0.383																																							0											0													57.0	59.0	58.0					20																	6758985		2203	4299	6502	SO:0001583	missense	0				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.440C>T	20.37:g.6758985C>T	ENSP00000368104:p.Ser147Leu			Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.S147L	ENST00000378827.4	37	c.440	CCDS13099.1	20	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543653	0.65198	.	.	ENSG00000125845	ENST00000378827	T	0.65732	-0.17	5.86	5.86	0.93980	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	M	0.90483	3.12	0.80722	D	1	D	0.56968	0.978	P	0.55545	0.778	D	0.83872	0.0274	10	0.72032	D	0.01	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	147	P12643	BMP2_HUMAN	L	147	ENSP00000368104:S147L	ENSP00000368104:S147L	S	+	2	0	BMP2	6706985	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	TCA	0	pfam_TGF-b_N		0.383	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP2	protein_coding	OTTHUMT00000077918.3	183	296	0	0.00	0	0	C		0	0		6758985	1	no_errors	ENST00000378827	ensembl	human	known	74_37	missense	109	259	22.14	21.99	31	73	SNP	1	T
TEX33	339669	genome.wustl.edu	37	22	37397917	37397917	+	Missense_Mutation	SNP	A	A	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr22:37397917A>T	ENST00000405091.2	-	4	701	c.450T>A	c.(448-450)ttT>ttA	p.F150L	TEX33_ENST00000381821.1_Missense_Mutation_p.F150L|TEX33_ENST00000402860.3_Missense_Mutation_p.F65L			O43247	TEX33_HUMAN	testis expressed 33	150																	CATTGCTCCCAAACTTGTGGC	0.557																																							0											0													121.0	76.0	91.0					22																	37397917		2203	4300	6503	SO:0001583	missense	0			BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.450T>A	22.37:g.37397917A>T	ENSP00000386118:p.Phe150Leu		B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	NULL	p.F150L	ENST00000405091.2	37	c.450	CCDS54524.1	22	.	.	.	.	.	.	.	.	.	.	.	23.2	4.387169	0.82902	.	.	ENSG00000185264	ENST00000402860;ENST00000405091;ENST00000381821	.	.	.	5.15	-0.646	0.11472	.	0.191802	0.37261	N	0.002165	T	0.69396	0.3106	M	0.71581	2.175	0.36016	D	0.838417	D	0.76494	0.999	D	0.83275	0.996	T	0.71199	-0.4663	9	0.51188	T	0.08	-12.0573	10.3421	0.43884	0.491:0.0:0.509:0.0	.	150	O43247	EAN57_HUMAN	L	65;150;150	.	ENSP00000371243:F150L	F	-	3	2	C22orf33	35727863	0.953000	0.32496	0.991000	0.47740	0.996000	0.88848	-0.182000	0.09726	-0.389000	0.07786	0.533000	0.62120	TTT	0	NULL		0.557	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TEX33	protein_coding	OTTHUMT00000318778.2	38	152	0	0.65	0	1	A	NM_178552	0	0		37397917	-1	no_errors	ENST00000381821	ensembl	human	known	74_37	missense	20	109	38.24	19.85	13	27	SNP	0.991	T
CACNA1I	8911	genome.wustl.edu	37	22	40075830	40075830	+	Missense_Mutation	SNP	C	C	T			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr22:40075830C>T	ENST00000402142.3	+	33	5498	c.5498C>T	c.(5497-5499)tCc>tTc	p.S1833F	CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1839F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1833F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1798F|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1798F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1798F	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1833					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CACCACTACTCCTCGCCTGCC	0.597																																							0											0													38.0	43.0	41.0					22																	40075830		2031	4182	6213	SO:0001583	missense	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5498C>T	22.37:g.40075830C>T	ENSP00000385019:p.Ser1833Phe		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.S1839F	ENST00000402142.3	37	c.5516	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049091	0.36181	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97791	-4.52;-4.51;-4.45;-4.41;-4.54;-4.47	4.13	4.13	0.48395	.	2.045600	0.02768	U	0.119388	D	0.97923	0.9317	L	0.56769	1.78	0.41356	D	0.987394	P;B;P;P	0.40875	0.514;0.226;0.731;0.612	B;B;P;B	0.47528	0.33;0.33;0.549;0.347	D	0.90184	0.4245	10	0.51188	T	0.08	.	16.7705	0.85536	0.0:1.0:0.0:0.0	.	1798;1833;1798;1833	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	F	1833;1798;1833;1798;1839;1798	ENSP00000385019:S1833F;ENSP00000384093:S1798F;ENSP00000383887:S1833F;ENSP00000385680:S1798F;ENSP00000337829:S1839F;ENSP00000383028:S1798F	ENSP00000337829:S1839F	S	+	2	0	CACNA1I	38405776	1.000000	0.71417	0.761000	0.31378	0.005000	0.04900	3.538000	0.53597	2.004000	0.58718	0.561000	0.74099	TCC	0	NULL		0.597	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	protein_coding	OTTHUMT00000321290.1	59	156	0	0.00	0	0	C	NM_001003406	0	0		40075830	1	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	29	80	19.44	20.79	7	21	SNP	1	T
KIAA1841	84542	genome.wustl.edu	37	2	61315638	61315639	+	Intron	INS	-	-	TA	rs377349663|rs371063167		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	-	-	-	TA	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr2:61315638_61315639insTA	ENST00000402291.1	+	10	1329				KIAA1841_ENST00000295031.5_Intron|KIAA1841_ENST00000356719.2_Intron|KIAA1841_ENST00000453873.1_Intron|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841											breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			atgtatttttgtatatatatat	0.386																																							0											0																																										SO:0001627	intron_variant	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1088+35->TA	2.37:g.61315647_61315648dupTA			Q49AF0|Q6ZND0|Q96JI6	RNA	INS	0	NULL	ENST00000402291.1	37	NULL	CCDS46296.1	2																																																																																			0	0		0.386	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	protein_coding	OTTHUMT00000325477.1	55	62	1.79	1.59	1	1	0	NM_032506	rs371063167	G->GTA		61315639	1	no_errors	ENST00000482513	ensembl	human	known	74_37	rna	35	94	12.5	5.05	5	5	INS	0.001:0.001	TA
IRF1	3659	genome.wustl.edu	37	5	131822507	131822508	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr5:131822507_131822508insA	ENST00000245414.4	-	5	651_652	c.393_394insT	c.(391-396)gctaagfs	p.K132fs	IRF1_ENST00000405885.2_Frame_Shift_Ins_p.K132fs|IRF1_ENST00000463784.1_5'UTR	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	132					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCTTGCTCTTAGCATCTCGGC	0.594																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.394dupT	5.37:g.131822508_131822508dupA	ENSP00000245414:p.Lys132fs		Q96GG7	Frame_Shift_Ins	INS	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.K131fs	ENST00000245414.4	37	c.394_393	CCDS4155.1	5																																																																																			0	pirsf_Interferon_reg_fac-1/2		0.594	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	protein_coding	OTTHUMT00000132340.1	20	211	0	0.00	0	0	0	NM_002198	0	0		131822508	-1	no_errors	ENST00000245414	ensembl	human	known	74_37	frame_shift_ins	9	120	35.71	32.58	5	58	INS	0.963:0.727	A
TNFAIP3	7128	genome.wustl.edu	37	6	138192383	138192386	+	Frame_Shift_Del	DEL	CCTC	CCTC	-			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	CCTC	CCTC	CCTC	-	CCTC	CCTC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr6:138192383_138192386delCCTC	ENST00000237289.4	+	2	85_88	c.19_22delCCTC	c.(19-24)cctcagfs	p.PQ7fs		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	7					apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACAAGTCCTTCCTCAGGCTTTGTA	0.387			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""						OREG0031869	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																									GBM(130;153 1739 22295 28918 47987)		0		Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)																																								SO:0001589	frameshift_variant	0			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.19_22delCCTC	6.37:g.138192383_138192386delCCTC	ENSP00000237289:p.Pro7fs	1639	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Frame_Shift_Del	DEL	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.P7fs	ENST00000237289.4	37	c.19_22	CCDS5187.1	6																																																																																			0	NULL		0.387	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	protein_coding	OTTHUMT00000042414.1	24	161	0	0.00	0	0	CCTC		0	0		138192386	1	no_errors	ENST00000237289	ensembl	human	known	74_37	frame_shift_del	16	96	30.43	21.95	7	27	DEL	1.000:1.000:0.996:1.000	0
GPR180	160897	genome.wustl.edu	37	13	95271505	95271505	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr13:95271505delC	ENST00000376958.4	+	4	632	c.607delC	c.(607-609)cacfs	p.H203fs		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	203					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CGGACCCATGCACATGATTTT	0.393																																							0											0													177.0	170.0	173.0					13																	95271505		2203	4300	6503	SO:0001589	frameshift_variant	0			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.607delC	13.37:g.95271505delC	ENSP00000366157:p.His203fs		A8K1D5	Frame_Shift_Del	DEL	pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk	p.H203fs	ENST00000376958.4	37	c.607	CCDS9472.1	13																																																																																			0	pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk		0.393	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR180	protein_coding	OTTHUMT00000045465.3	62	274	0	0.00	0	0	C	NM_180989	0	0		95271505	1	no_errors	ENST00000376958	ensembl	human	known	74_37	frame_shift_del	23	150	36.11	24.62	13	49	DEL	1	0
SYNE2	23224	genome.wustl.edu	37	14	64679552	64679552	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr14:64679552delA	ENST00000344113.4	+	105	19097	c.18885delA	c.(18883-18885)ttafs	p.L6295fs	SYNE2_ENST00000358025.3_Frame_Shift_Del_p.L6295fs|SYNE2_ENST00000554805.1_Frame_Shift_Del_p.L78fs|SYNE2_ENST00000394768.2_Frame_Shift_Del_p.L2680fs|SYNE2_ENST00000357395.3_Frame_Shift_Del_p.L2680fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.L6254fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000555022.1_Frame_Shift_Del_p.L173fs|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000555002.1_Frame_Shift_Del_p.L2929fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6295					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATTACATTAAATACCAACA	0.468																																							0											0													74.0	74.0	74.0					14																	64679552		2203	4300	6503	SO:0001589	frameshift_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18885delA	14.37:g.64679552delA	ENSP00000341781:p.Leu6295fs		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.N6296fs	ENST00000344113.4	37	c.18885	CCDS41963.1	14																																																																																			0	smart_Spectrin/alpha-actinin		0.468	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	62	231	0	0.00	0	0	A	NM_182914	0	0		64679552	1	no_errors	ENST00000358025	ensembl	human	known	74_37	frame_shift_del	26	163	29.73	23.83	11	51	DEL	0.999	0
AC026781.1	0	genome.wustl.edu	37	5	92053146	92053147	+	RNA	DEL	TG	TG	-	rs369530763		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr5:92053146_92053147delTG	ENST00000408883.1	-	0	73_74																											ATAgtgtgtctgtgtgtgtgtg	0.267																																							0											0																																												0																															5.37:g.92053156_92053157delTG				RNA	DEL	0	NULL	ENST00000408883.1	37	NULL		5																																																																																			0	0		0.267	AC026781.1-201	NOVEL	basic	miRNA	ENSG00000221810	miRNA		39	0	0	0.00	0	0	TG		0	0		92053147	-1	no_errors	ENST00000408883	ensembl	human	novel	74_37	rna	28	0	9.68	0.00	3	0	DEL	0.002:0.000	0
UBE2B	7320	genome.wustl.edu	37	5	133707247	133707248	+	5'UTR	INS	-	-	T	rs35950497|rs397796739		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr5:133707247_133707248insT	ENST00000265339.2	+	0	378_379				CDKL3_ENST00000435240.2_5'Flank|CDKL3_ENST00000609654.1_5'Flank|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523054.1_5'Flank|CDKL3_ENST00000609383.1_5'Flank|UBE2B_ENST00000511807.1_3'UTR|CDKL3_ENST00000521755.1_5'Flank|CDKL3_ENST00000522501.1_5'Flank|CDKL3_ENST00000536186.1_5'Flank	NM_003337.2	NP_003328.1	P63146	UBE2B_HUMAN	ubiquitin-conjugating enzyme E2B						canonical Wnt signaling pathway (GO:0060070)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to insulin stimulus (GO:0032869)|chiasma assembly (GO:0051026)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|histone lysine demethylation (GO:0070076)|in utero embryonic development (GO:0001701)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of histone phosphorylation (GO:0033128)|positive regulation of reciprocal meiotic recombination (GO:0010845)|postreplication repair (GO:0006301)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|sperm axoneme assembly (GO:0007288)|spermatogenesis (GO:0007283)|synaptonemal complex organization (GO:0070193)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|replication fork (GO:0005657)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(2)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ctgcgcgggACTTTTTTTTTTT	0.693								Rad6 pathway																															0											0																																										SO:0001623	5_prime_UTR_variant	0			M74525	CCDS4174.1	5q31.1	2011-05-19	2011-05-19		ENSG00000119048	ENSG00000119048		"""Ubiquitin-conjugating enzymes E2"""	12473	protein-coding gene	gene with protein product		179095	"""ubiquitin-conjugating enzyme E2B (RAD6 homolog)"""			1559696	Standard	NM_003337		Approved	UBC2, HHR6B, RAD6B	uc003kzh.3	P63146	OTTHUMG00000129120	ENST00000265339.2:c.-39->T	5.37:g.133707258_133707258dupT			B2R503|D3DQA2|P23567|Q4PJ15|Q9D0J6	RNA	INS	0	NULL	ENST00000265339.2	37	NULL	CCDS4174.1	5																																																																																			0	0		0.693	UBE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2B	protein_coding	OTTHUMT00000251166.2	34	0	2.86	0.00	1	0	0	NM_003337	0	0		133707248	1	no_errors	ENST00000511807	ensembl	human	known	74_37	rna	22	3	8.33	0.00	2	0	INS	1.000:1.000	T
